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Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24.2‐q25.2 deletion inherited from a paternal insertion
Author(s) -
Meloni Vera Ayres,
Guilherme Roberta Santos,
Oliveira Mariana Moyses,
Migliavacca Michele,
Takeno Sylvia Satomi,
Sobreira Nara Lygia Macena,
de Fatima Faria Soares Maria,
de Mello Claudia Berlim,
Melaragno Maria Isabel
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36631
Subject(s) - microcephaly , intellectual disability , fluorescence in situ hybridization , short stature , genetics , biology , phenotype , microarray , gene , chromosome , gene expression , endocrinology
The chromosomal segment 6q24‐q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10‐year follow‐up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2‐q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. © 2014 Wiley Periodicals, Inc.