A rare mosaic interstitial deletion of 7q, 46,XX/46,XX,del(7)(q22.1q31.33), results in a mild clinical phenotype
- Baylor College of Medicine, Houston, TX (United States)
Constitutional mosaic structural rearrangements, including deletions, are extremely rare in the population. We present a case of mosaicism for a deletion of chromosome 7q. The patient`s phenotype is much milder than that of non-mosaic patients with a similar deletion of 7q. A 6 and 9/12-year-old Caucasian girl was evaluated because of attention deficit disorder and speech delay. She was born at 38 weeks gestation to her 37 year old G2P2 mother. Her birth weight was 2.2 kg (3rd centile), length was 47 cm (10th-25th centile), and OFC was 30.5 cm (<10th centile). Her motor development was normal. Her speech development was profoundly delayed with her first words spoken at 3 years, and 2-3 word sentences spoken at 5-6 years. At 6 and 9/12 years, she manifested mild mental retardation and profound speech delay, but only mildly dysmorphic features (protuberant ears with under-developed antihelices, flattened forehead, moderate micro-retrognathia). Height, weight, and OFC were at the 10th centile. Chromosomal analysis showed the presence of two cell lines, with 66% of the lymphocytes having a 46,XX pattern and 33% having a 46,XX,del(7)(q22.1q31.33) karyotype. Less than 20 cases of interstitial 7q deletions extending from bands 7q21 or 7q22 to 7q31 or 7q32 have been reported. Our patient represents the first documented case with a mosaic interstitial deletion of chromosome 7q. Furthermore, the deletion resulted in a relatively mild phenotype when compared to reported non-mosaic interstitial 7q deletions, and thus expands the range of clinical heterogeneity that can be anticipated in interstitial deletion patients.
- OSTI ID:
- 133756
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0488
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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