Abstract

We describe here a newborn with a de novo 22.6Mb interstitial deletion of chromosome 5q22.3. The clinical findings included brachycephaly, a high forehead, hypertelorism with prominent eyes, low-set ears, clenched hands, club feet, a prominent coccyx with hair, ambiguous genitalia, inguinal hernia, heart defect and severe failure to thrive. This case had a more severe phenotype, compared with the previous reports of interstitial 5q syndrome. High resolution multicolor banding and array comparative genomic hybridization (array CGH) analysis delineated the breakpoints at 5q22.3 and 5q31.2. There were no obvious candidate genes for the specific correlation with the phenotypes except a PITX1 gene associated with the phenotype of club feet. Further cumulative data based on the molecular approach are needed to establish the genotype-phenotype correlation and to understand the role and influence of the genes in the interstitial 5q syndrome.

Links

Publisher Full Text

Authors

Lee S, Chae H, Park IY, Kim M, Kim Y, Shin JC, Lee J, Son J

Institution

Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Source

Gene 494:1 2012 Feb 15 pg 105-8

MeSH

Abnormalities, Multiple
Chromosomes, Human, Pair 5
Craniofacial Abnormalities
Genetic Association Studies
Humans
Infant, Newborn
Limb Deformities, Congenital
Sequence Deletion

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22178765