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The interstitial deletion of bands q33–35 of long arm of chromosome 7: a review with a new case report
Author(s) -
Verma Ram S.,
Conte Robert A.,
Sayegh Sami L.,
Kanjilal Debasis
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03638.x
Subject(s) - monosomy , long arm , conductive hearing loss , myringotomy , chromosome , physical examination , hearing loss , chromosome 7 (human) , deletion syndrome , biology , medicine , genetics , pediatrics , karyotype , anatomy , surgery , middle ear , audiology , gene , phenotype
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.