Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations.
The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable facial dysmorphisms and identical cytogenetic abnormality-a derivative (7) t(1;7) (q32;q32) inherited from the father. The proband 1 showed a small mouth, a single median eye and a proboscis above the eye, while the proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both fetuses also had alobar holoprosencephaly. Haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in the two fetuses with a deletion of distal 7q (7q32 --> qter).
Chuang
Louise
L
Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, 138 Victory Road, Tainan, Taiwan.
Kuo
Pao-Lin
PL
Yang
Hsiao-Bai
HB
Chien
Chung-Ho
CH
Chen
Pei-Yi
PY
Chang
Chiung-Hsin
CH
Chang
Fong-Ming
FM
D000015:Abnormalities, Multiple / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D002897:Chromosomes, Human, Pair 7; D005220:Fathers; D005260:Female; D040941:Heredity / Q000235:genetics*; D006579:Heterozygote; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D032681:Spectral Karyotyping; D014178:Translocation, Genetic