De novo partial duplications 1p: Report of two new cases and review

We describe two de novo intrachromosomal duplications of 1p, One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth r etardation, and tetralogy of Fallot, The other is a 10-month-old girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1 p31, Although, these patients have manifestations in common with previous c ases, they do not establish a syndrome. Interestingly, all males with dupli cations spanning 1p31 had genital anomalies, whereas females with duplicati ons of the same region had normal genitalia. Thus, genes within 1p31 appear to control the development of male genitalia and tentatively exclude effec ts of tda1, a sex-determining gene in a region of mouse chromosome 4 synten ic to 1p36 in man, However, it is necessary to identify the human tda1 homo logue and candidate genes within 1p31 before drawing final conclusions. (C) 1999 Wiley-Liss, Inc.