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Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

Abstract：

:We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age. These are macrocephaly, neonatal hypotonia, severe psychomotor retardation with markedly delayed motor milestones and speech development, epicanthic folds, a thin upper lip, a short and wide/webbed neck, pectus excavatum and (kypho)scoliosis. These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

de Ravel TJ,Ameye L,Ballon K,Borghgraef M,Vermeesch JR,Devriendt K

doi

10.1016/j.ejmg.2009.02.002

subject

Has Abstract

pub_date

2009-03-01 00:00:00

pages

145-7

issue

2-3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(09)00009-3

journal_volume

52

pub_type

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