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Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.77-86
Burgess, Trent
Brown, Natasha J.
Stark, Zornitza
Bruno, Damien L.
Oertel, Ralph
Chong, Belinda
Calabro, Vanessa
Kornberg, Andrew
Sanderson, Christine
Kelly, Julian
Howell, Katherine B.
Savarirayan, Ravi
Hinds, Rupert
Greenway, Anthea
Slater, Howard R.
White, Susan M.
2014
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Burgess, Trent
Brown, Natasha J.
Stark, Zornitza
Bruno, Damien L.
Oertel, Ralph
Chong, Belinda
Calabro, Vanessa
Kornberg, Andrew
Sanderson, Christine
Kelly, Julian
Howell, Katherine B.
Savarirayan, Ravi
Hinds, Rupert
Greenway, Anthea
Slater, Howard R.
White, Susan M.
Titel
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
Ist Teil von
American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.77-86
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2014
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond–Blackfan anemia. We report on four further patients and define the core phenotypic features of individuals with this microdeletion to include mild to moderate developmental delay or intellectual disability, postnatal short stature, anemia, and cryptorchidism in males. CDH and structural organ malformations appear to be less frequent associations, as is venous thrombosis. There is no consistent facial dysmorphism. Features novel to our patient group include dextrocardia, obstructive sleep apnea, and cleft lip. © 2013 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.36203
Titel-ID: cdi_proquest_miscellaneous_1492630035
Format
–
Schlagworte
15q25.2
,
Abnormalities, Multiple - diagnosis
,
Abnormalities, Multiple - genetics
,
Adolescent
,
anemia
,
Child
,
Child, Preschool
,
Chromosome Deletion
,
Chromosome Mapping
,
Chromosomes, Human, Pair 15
,
Comparative Genomic Hybridization
,
Female
,
Heterozygote
,
Humans
,
Infant
,
intellectual disability
,
Male
,
microdeletion
,
Phenotype
,
Polymorphism, Single Nucleotide
,
RPS17L
,
short stature
,
Syndrome
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