We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna
โฆ LIBER โฆ
De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome
โ Scribed by Chitayat, David ;Fagerstrom, Carrie L. ;Kalousek, Dagmar K. ;Rootman, Jack ;Taylor, Glenn P. ;Hall, Judith G. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 774 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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