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Prenatal diagnosis of the distal 11q deletion and review of the literature
Author(s) -
Chen ChihPing,
Chern SchuRern,
Chang TungYao,
Tzen ChinYuan,
Lee ChenChi,
Chen WenLin,
Chen LiFeng,
Wang Wayseen
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.802
Subject(s) - amniocentesis , camptodactyly , proband , prenatal diagnosis , karyotype , medicine , gestation , fetus , advanced maternal age , genetic counseling , obstetrics , chromosomal translocation , gynecology , chromosome , pregnancy , biology , genetics , anatomy , mutation , gene
Objectives To present the prenatal diagnosis of de novo distal 11q deletions and a review of the literature. Clinical Subjects and Methods A 31‐year‐old primigravid woman underwent amniocentesis at 20 weeks' gestation because of a maternal serum alpha‐fetoprotein (MSAFP) level of 2.63 multiples of the median. Amniocentesis demonstrated a karyotype of 46,XY,del(11)(q24.2). The parental karyotypes were normal. Level II ultrasound revealed short femurs and humeri, and overlapping of the toes. Postnatally, the proband manifested additional findings of the characteristic facial dysmorphism and camptodactyly. A 38‐year‐old gravida 2, para 1, woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(11)(q24.1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly. Results Of these two cases, genetic marker analysis determined the paternally derived distal deletions of chromosome 11q and the deletion breakpoints. A comparison of the present cases with the reported cases of prenatally diagnosed distal 11q deletion is made. Conclusion The distal 11q deletion can be identified prenatally because of parental balanced translocations involving chromosome 11, previous‐term infants with an unbalanced rearrangement, advanced parental age, sonographically detected fetal abnormalities and abnormal maternal serum screening. Fetuses with de novo distal 11q deletions may be associated with elevated MSAFP and abnormal sonographic findings of the digits and limbs in the second trimester. Copyright © 2004 John Wiley & Sons, Ltd.