title: Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation.
abstract: A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22).
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Shilpy
authors.initials: S
authors.lastname: Singla
authors.affiliation: Department of Medical Genetics, Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Viswas
authors.initials: V
authors.lastname: Chhapola
keywords: Congenital anomalies; partial trisomy 15q; translocation 6;15