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Article ; Online: New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.

Ciaccio, Claudia / Scuvera, Giulietta / Tucci, Arianna / Gentilin, Barbara / Baccarin, Marco / Marchisio, Paola / Avignone, Sabrina / Milani, Donatella

Cytogenetic and genome research

2018 Volume 156, Issue 3, Page(s) 127–133

Abstract: Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype ...

Abstract	Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Here, to further expand the knowledge on genotype and phenotype of this condition, we report 2 novel cases: one patient carrying a 46-kb 9q34.3 deletion and showing macrocephaly never described in KS, and a second patient carrying a classic 9q34.3 deletion, presenting with a previously unreported skeletal feature (postaxial polydactyly of the right foot) and an unusual brain anomaly (olfactory bulb hypoplasia) observed via magnetic resonance imaging. Further, we provide a review of the current literature regarding KS and compare these 2 patients with those previously described, thereby confirming that the genotype-phenotype correlation in KS remains difficult to determine.
MeSH term(s)	Brain/diagnostic imaging ; Brain/pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 9/genetics ; Craniofacial Abnormalities/diagnostic imaging ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Facies ; Genotype ; Heart Defects, Congenital/diagnostic imaging ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Infant ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnetic Resonance Imaging ; Male ; Megalencephaly/diagnostic imaging ; Megalencephaly/genetics ; Megalencephaly/pathology ; Mutation ; Olfactory Bulb/diagnostic imaging ; Olfactory Bulb/pathology ; Phenotype ; Polydactyly/genetics ; Polydactyly/pathology ; Toes/abnormalities
Chemical Substances	EHMT1 protein, human (EC 2.1.1.-) ; Histone-Lysine N-Methyltransferase (EC 2.1.1.43)
Language	English
Publishing date	2018-11-17
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000494532
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Article ; Online: Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Natacci, Federica / Alfei, Enrico / Tararà, Lucia / D'Arrigo, Stefano / Zuffardi, Orsetta / Gentilin, Barbara / Pantaleoni, Chiara

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2016 Volume 20, Issue 1, Page(s) 183–187

Abstract: Introduction: 17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only ... ...

Abstract	Introduction: 17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only seven patients have been reported thus far. All have behavioral disorders reminiscent of the autistic spectrum with intellectual skills ranging from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. Case study: Here we describe the segregation of 17q21.31 duplication in an Italian family. Discussion: Clinical features and genetic data are reported, and compared with previously reported patients with 17q21.31 microduplication. A comparison of clinical manifestations between deletion and duplication syndromes of the chromosome regione is provided.
MeSH term(s)	Chromosome Duplication/genetics ; Chromosomes, Human, Pair 17/genetics ; Developmental Disabilities/genetics ; Female ; Humans ; Italy ; Male ; Pedigree ; Phenotype ; Syndrome
Language	English
Publishing date	2016-01
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1397146-3
ISSN	1532-2130 ; 1090-3798
ISSN (online)	1532-2130
ISSN	1090-3798
DOI	10.1016/j.ejpn.2015.09.010
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Zs.A 4867: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

Gana, Simone / Gentilin, Barbara / Bianchi, Vera / Gorla, Sonia / Ceriani, Florinda / Melloni, Giulia / Lalatta, Faustina

Clinical dysmorphology

2013 Volume 22, Issue 4, Page(s) 135–139

MeSH term(s)	Adult ; Diagnosis, Differential ; Extremities/pathology ; Female ; Hand Deformities, Congenital/diagnosis ; Hand Deformities, Congenital/diagnostic imaging ; Hand Deformities, Congenital/pathology ; Humans ; Mandibulofacial Dysostosis/diagnosis ; Mandibulofacial Dysostosis/diagnostic imaging ; Mandibulofacial Dysostosis/pathology ; Phenotype ; Ultrasonography
Language	English
Publishing date	2013-10
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0b013e32836351c8
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Article: New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

Ciaccio, Claudia / Scuvera, Giulietta / Tucci, Arianna / Gentilin, Barbara / Baccarin, Marco / Marchisio, Paola / Avignone, Sabrina / Milani, Donatella

Cytogenetic and Genome Research

2018 Volume 156, Issue 3, Page(s) 127–133

Institution	Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan Medical Genetics Laboratory, and Neuroradiology Unit, Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico, Milan, and Asst Ovest Milanese, Presidio Ospedaliero di Legnano, Dipartimento dei Servizi, Ambulatorio di Genetica Medica, Legnano, Italy
Abstract	Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Here, to further expand the knowledge on genotype and phenotype of this condition, we report 2 novel cases: one patient carrying a 46-kb 9q34.3 deletion and showing macrocephaly never described in KS, and a second patient carrying a classic 9q34.3 deletion, presenting with a previously unreported skeletal feature (postaxial polydactyly of the right foot) and an unusual brain anomaly (olfactory bulb hypoplasia) observed via magnetic resonance imaging. Further, we provide a review of the current literature regarding KS and compare these 2 patients with those previously described, thereby confirming that the genotype-phenotype correlation in KS remains difficult to determine.
Keywords	Olfactory bulbs ; Polydactyly ; 9q34.3 ; Developmental delay ; Kleefstra syndrome
Language	English
Publishing date	2018-11-17
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Original Article
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000494532
Database	Karger publisher's database

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Article ; Online: Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

Lalatta, Faustina / Motta, Francesca / Restelli, Elisa / Bellini, Martina / Miozzo, Monica / Gervasini, Cristina / Dallapiccola, Bruno / Gentilin, Barbara / Fedele, Luigi

Clinical dysmorphology

2015 Volume 24, Issue 3, Page(s) 95–101

Abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) patients are characterized by congenital aplasia of the uterus and the upper part of the vagina, with normal secondary sexual characteristics. This disorders affects one in 4000-5000 females and it is classified as ... ...

Abstract	Mayer-Rokitansky-Küster-Hauser (MRKH) patients are characterized by congenital aplasia of the uterus and the upper part of the vagina, with normal secondary sexual characteristics. This disorders affects one in 4000-5000 females and it is classified as typical, type I or isolated, and as atypical, type II, manifesting additional malformations. To date, no specific study has addressed the question of facial features in MRKH patients. The aim of this study is to perform a dysmorphological assessment of a large cohort of patients. We studied 115 women referred to our center from 2008 to 2012. Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (MRKH type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, skeletal anomalies, and hearing impairment. Auxologic investigations comprised measurements of height, weight, BMI, head circumference, arm span, span to height ratio, hand length, middle finger length, foot length, inner and outer intercanthal distance, and auricle length. All patients had normal measurements, except for the outer canthal distance-inner canthal distance ratio, which was consistent with elongated eyelids. Women with MRKH syndromes do not present a typical facial feature and a dysmorphological examination of all patients seems unnecessary. However, a multidisciplinary approach is useful with respect to explaining the etiology, interpreting test results, and counseling.
MeSH term(s)	46, XX Disorders of Sex Development/pathology ; Adolescent ; Adult ; Body Weights and Measures ; Congenital Abnormalities/pathology ; Craniofacial Abnormalities/etiology ; Craniofacial Abnormalities/pathology ; Diagnosis, Differential ; Female ; Humans ; Middle Aged ; Mullerian Ducts/abnormalities ; Mullerian Ducts/pathology ; Uterus/abnormalities ; Uterus/pathology ; Vagina/abnormalities ; Vagina/pathology
Language	English
Publishing date	2015-07
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000087
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Article ; Online: Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome.

Bulfamante, Gaetano / Gana, Simone / Avagliano, Laura / Fabietti, Isabella / Gentilin, Barbara / Lalatta, Faustina

Prenatal diagnosis

2011 Volume 31, Issue 9, Page(s) 910–911

MeSH term(s)	Acrocephalosyndactylia/diagnostic imaging ; Adult ; Female ; Gestational Age ; Hernia, Diaphragmatic/diagnostic imaging ; Hernias, Diaphragmatic, Congenital ; Humans ; Mutation ; Pregnancy ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Ultrasonography, Prenatal
Chemical Substances	FGFR2 protein, human (EC 2.7.10.1) ; Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.10.1)
Language	English
Publishing date	2011-09
Publishing country	England
Document type	Case Reports ; Letter
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.2788
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Article ; Online: Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia.

Galbiati, Silvia / Brisci, Angela / Damin, Francesco / Gentilin, Barbara / Curcio, Cristina / Restagno, Gabriella / Cremonesi, Laura / Ferrari, Maurizio

Expert opinion on biological therapy

2012 Volume 12 Suppl 1, Page(s) S181–7

Abstract: Introduction: In pregnancy, the discovery of fetal DNA in maternal blood outlined new scenarios for noninvasive prenatal diagnosis of numerous fetal pathological conditions based on a new source of fetal genetic material. Tests on fetal DNA circulating ... ...

Abstract	Introduction: In pregnancy, the discovery of fetal DNA in maternal blood outlined new scenarios for noninvasive prenatal diagnosis of numerous fetal pathological conditions based on a new source of fetal genetic material. Tests on fetal DNA circulating in maternal plasma are expected to replace or reduce invasive procedures, such as chorionic villi sampling and amniocentesis, that are typically carried out late in pregnancy and pose a risk of miscarriage. Areas covered: Nevertheless, at present, no accurate and simple methods for noninvasive prenatal diagnosis of genetic diseases are available, thus preventing a widespread clinical application. Expert opinion: Two highly different sensitive methodologies are reported both allowing the identification of fetal paternally inherited mutations in maternal plasma DNA during the first trimester of pregnancy in a clinically relevant genetic disease. The first one includes mutant enrichment amplification protocols either based on the use of PNA (peptide nucleic acids) or on CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR). In the second approach, an extremely sensitive microarray substrates are exploited which allows the detection of fetal mutated alleles even without the need of any enrichment strategy. Beta-thalassemia has been chosen as a model of clinically relevant genetic disease.
MeSH term(s)	DNA/blood ; Female ; Fetus/metabolism ; Humans ; Pregnancy ; Prenatal Diagnosis ; beta-Thalassemia/blood ; beta-Thalassemia/diagnosis
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2012-06
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2052501-1
ISSN	1744-7682 ; 1471-2598
ISSN (online)	1744-7682
ISSN	1471-2598
DOI	10.1517/14712598.2012.677428
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Article ; Online: Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

Cesaretti, Claudia / Gentilin, Barbara / Bianchi, Vera / Melloni, Giulia / Bonaguro, Michela / Rossi, Cesare / Meazzini, Costanza / Brusati, Roberto / Lalatta, Faustina

Clinical dysmorphology

2011 Volume 20, Issue 4, Page(s) 229–231

MeSH term(s)	Child ; Child, Preschool ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/genetics ; DNA-Directed RNA Polymerases/genetics ; Exons ; Female ; Humans ; Introns ; Karyotype ; Male ; Mandibulofacial Dysostosis/diagnosis ; Mandibulofacial Dysostosis/genetics ; Nose/abnormalities ; Nuclear Proteins/genetics ; Phenotype ; Phosphoproteins/genetics ; Siblings
Chemical Substances	Nuclear Proteins ; Phosphoproteins ; TCOF1 protein, human ; DNA-Directed RNA Polymerases (EC 2.7.7.6) ; POLR1C protein, human (EC 2.7.7.6) ; POLR1D protein, human (EC 2.7.7.6)
Language	English
Publishing date	2011-10
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0b013e3283491725
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Article ; Online: Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Lalatta Faustina / Folliero Emanuela / Cavallari Ugo / Di Segni Marina / Gentilin Barbara / Fogliani Roberto / Quagliarini Donatella / Vizziello Paola / Monti Federico / Gargantini Luigi

The Italian Journal of Pediatrics, Vol 38, Iss 1, p

2012 Volume 52

Abstract: Abstract Background An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one out of 1,000 newborn males, ...

Abstract	Abstract Background An increasing number of foetuses are recognized as having double Y because of the widespread use of prenatal screening using chorionic villus sampling and amniocentesis. 47, XYY karyotype occurs in about one out of 1,000 newborn males, but it is not often detected unless it is diagnosed during prenatal testing. Despite the fact that unbiased follow-up studies demonstrate largely normal post-natal development of young men with 47, XYY, there is a scarcity of controlled studies about the neurological, cognitive and behavioural phenotype which remains the main reason for anxiety and anticipatory negative attitudes of parents. Furthermore, prejudices still exist among professionals and the general population concerning the relationship between this sex chromosome aneuploidy and aggressive and antisocial behaviours. Methods We report on the clinical follow-up of children diagnosed prenatally with a 47,XYY karyotype, whose parents received multidisciplinary counselling and support at time of diagnosis. The specific focus of our study is on auxology, facial features, developmental milestones, behaviour, detection of aggressiveness as well as the evaluation of parental attitudes toward prenatal counselling. Clinical evaluations including auxological measurements and dysmorphological descriptions were as conducted on 13 boys aged 9 month -7 years. The Child Behavior Check List test specific for age and a 15 item questionnaire were administered to both parents. An update of ongoing problems was carried out by means of a telephone interview two years later. Results Our results show that, from birth, weight, height and head circumference were above average values while some facial features such mild hypertelorism are overrepresented when compared to parents' facial features. Language delay was detected in 8 out of 11 children older than 20 months. Parental attitudes were found to be favourable toward prenatal diagnoses of sexual chromosome aneuploidies. Conclusions Our data, although limited, is similar to other observational studies, and serves to alert clinicians about opportunities to delineate new and appropriate educational interventions that target the specific learning challenges of XYY boys. Our experience better defines the early manifestation of XYY and should aid those involved in prenatal counselling and paediatric surveillance.
Keywords	Pediatrics ; RJ1-570 ; Medicine ; R ; DOAJ:Pediatrics ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	150
Language	English
Publishing date	2012-10-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
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Article: Limited value of echography to predict true fetal mosaicism for trisomy 12.

Gentilin, Barbara / Giardino, Daniela / Boschetto, Chiara / Guerneri, Silvana / Fortuna, Renato / Rizzuti, Tommaso / Lalatta, Faustina

Prenatal diagnosis

2006 Volume 26, Issue 12, Page(s) 1186–1189

MeSH term(s)	Abortion, Induced ; Adult ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 12 ; Electrocardiography ; Female ; Humans ; Mosaicism ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis/methods ; Trisomy
Language	English
Publishing date	2006-12
Publishing country	England
Document type	Case Reports ; Letter ; Review
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.1587
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