Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations |
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| Authors: | Louise Chuang Pao-Lin Kuo Hsiao-Bai Yang Chung-Ho Chien Pei-Yi Chen Chiung-Hsin Chang Fong-Ming Chang |
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| Institution: | 1. Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan;2. Department of Pathology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan
Department of Pathology, Ton Yen General Hospital, Hsin Chu, Taiwan;3. Department of Pathology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan |
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| Abstract: | 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). Copyright © 2003 John Wiley & Sons, Ltd. |
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| Keywords: | holoprosencephaly prenatal diagnosis double translocations partial duplication 1q and partial deletion 7q |
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