Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.
Chen
C P
CP
Department of Obstetrics and Gynaecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Lee
C C
CC
Chen
L F
LF
Chuang
C Y
CY
Jan
S W
SW
Chen
B F
BF
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities; D002883:Chromosomes, Human, Pair 14; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography