Affiliations: Department of Clinical Genetics, National Institute of
Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran | Tehran Medical Genetics Laboratory, Tehran,
Iran | Department of Medical Genetics, Tarbiat Modaress
University, Tehran, Iran
Note: [] Correspondence: Frouzandeh Mahjoubi, PhD., Department of
Clinical Genetics, National Research Institute for Genetic Engineering and
Biotechnology (NIGEB), Pajoohesh Blvd. Karaj High Way, P.O. Box 14155-6343,
Tehran, Iran. Tel.: +9821 44580389; Fax: +9821 44580399; E-mail:
[email protected] & [email protected]
Abstract: Here we describe clinical and cytogenetic data on 2-year-old female
child with partial trisomy for the distal part of the long arm of chromosome 10
(10q22–>qter) and a concomitant monosomy
3(p25–>pter) as a result of a maternal balanced reciprocal
translocation. Her karyotype was ascertained as 46,XX,der(3)t(3;10)(p25;q22).
The father had normal karyotype. The mother had an apparently balanced
translocation involving chromosome 3 and 10 [46,XX,t(3;10)(p25;q22)]. This is
the second reported case of partial trisomy 10q and partial trisomy 3p.
Clinical features of this case and a few published cases will be reviewed
briefly.