The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report

Autor: Debasis Kanjilal, Sami L. Sayegh, Ram S. Verma, Robert A. Conte
Rok vydání: 2008
Předmět:
Zdroj: Clinical Genetics. 41:82-86
ISSN: 1399-0004
0009-9163
DOI: 10.1111/j.1399-0004.1992.tb03638.x
Popis: Verma RS, Conte RA, Sayegh SE, Kanjilal D. The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report. Clin Genet 1992:41: 82–86. Interstitial or terminal deletion resulting in partial monosomy of various segments of the long arm of chromosome 7 was first recorded over two decades ago. Since then, a number of reports have correlated the severity of clinical manifestations with the length of the deletion involved. However, difficulty remains in defining a so-called “distinct syndrome”. We present a new case with the shortest interstitial deletion of the long arm of chromosome 7 bands q33–35, i.e. 46,XX,del(7)(pter q33::q35 qter). A 4-year-old black female was referred for cytogenetic evaluation due to neurodevelopmental delay. Pertinent physical examination at birth was cleft lip and cleft palate which required corrective surgery. At 2 years of age, a myringotomy tube was inserted for repeated ear infection and a hearing aid was required for conductive deafness. Neurological examination revealed poor eye contact, and severe mental and motor retardation. We reviewed 21 cases of a partial interstitial deletion of varied segments of the long arm of chromosome 7, but we were unable to establish a definite relationship with the deletion of various 7q segments with any specific clinical manifestations.
Databáze: OpenAIRE
Externí odkaz: