In:
Cytogenetic and Genome Research, S. Karger AG, Vol. 158, No. 4 ( 2019), p. 192-198
Abstract:
Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4th and 5th fingers, and dysmorphic facial features discordant for PWS and consistent with an atypical phenotype.
Type of Medium:
Online Resource
ISSN:
1424-8581
,
1424-859X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2019
detail.hit.zdb_id:
2061918-2
SSG:
12
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