In:
American Journal of Medical Genetics Part A, Wiley, Vol. 170, No. 9 ( 2016-09), p. 2372-2376
Abstract:
We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post‐delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly‐ectodermal dysplasia‐cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G 〉 A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63 ‐related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63 ‐associated disorders. © 2016 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v170.9
DOI:
10.1002/ajmg.a.37816
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
1493479-6
SSG:
12
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