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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Am J Med Genet A 2005; 137(1):88-93AJ

Abstract

Molecular cytogenetics allows the identification of cryptic chromosome rearrangements, which is clinically useful in mentally retarded and/or dysmorphic individuals with normal results from conventional cytogenetics analysis. We report on a 3-year-old girl with mental retardation, growth deficiency, speech delay, and dysmorphic features including hypertelorism, upslanting palpebral fissures, midfacial hypoplasia, and posteriorly rotated ears. The G-banding analysis showed a 46,XX,t(3;8)(q26.2;p21.1)mat karyotype. However, her clinical features were suggestive of the 18q syndrome. Subtelomeric FISH analysis revealed a der(18) translocated material from chromosome 17. Array-based comparative genomic hybridization (array-CGH) with subtelomeric BAC and PAC clones confirmed the abnormality and refined the breakpoints to 18q22.3-qter and 17p13.2-pter (deletion of 8.5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

16015583

Citation

Hwang, Kwei Shuai, et al. "Cryptic Unbalanced Translocation T(17;18)(p13.2;q22.3) Identified By Subtelomeric FISH and Defined By Array-based Comparative Genomic Hybridization in a Patient With Mental Retardation and Dysmorphic Features." American Journal of Medical Genetics. Part A, vol. 137, no. 1, 2005, pp. 88-93.
Hwang KS, Pearson MA, Stankiewicz P, et al. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am J Med Genet A. 2005;137(1):88-93.
Hwang, K. S., Pearson, M. A., Stankiewicz, P., Lennon, P. A., Cooper, M. L., Wu, J., ... Cheung, S. W. (2005). Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. American Journal of Medical Genetics. Part A, 137(1), pp. 88-93.
Hwang KS, et al. Cryptic Unbalanced Translocation T(17;18)(p13.2;q22.3) Identified By Subtelomeric FISH and Defined By Array-based Comparative Genomic Hybridization in a Patient With Mental Retardation and Dysmorphic Features. Am J Med Genet A. 2005 Aug 15;137(1):88-93. PubMed PMID: 16015583.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. AU - Hwang,Kwei Shuai, AU - Pearson,Margaret A, AU - Stankiewicz,Pawel, AU - Lennon,P Alan, AU - Cooper,M Lance, AU - Wu,Jessica, AU - Ou,Zhishuo, AU - Cai,Wei-Wen, AU - Patel,Ankita, AU - Cheung,Sau Wai, PY - 2005/7/15/pubmed PY - 2005/8/23/medline PY - 2005/7/15/entrez SP - 88 EP - 93 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 137 IS - 1 N2 - Molecular cytogenetics allows the identification of cryptic chromosome rearrangements, which is clinically useful in mentally retarded and/or dysmorphic individuals with normal results from conventional cytogenetics analysis. We report on a 3-year-old girl with mental retardation, growth deficiency, speech delay, and dysmorphic features including hypertelorism, upslanting palpebral fissures, midfacial hypoplasia, and posteriorly rotated ears. The G-banding analysis showed a 46,XX,t(3;8)(q26.2;p21.1)mat karyotype. However, her clinical features were suggestive of the 18q syndrome. Subtelomeric FISH analysis revealed a der(18) translocated material from chromosome 17. Array-based comparative genomic hybridization (array-CGH) with subtelomeric BAC and PAC clones confirmed the abnormality and refined the breakpoints to 18q22.3-qter and 17p13.2-pter (deletion of 8.5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16015583/Cryptic_unbalanced_translocation_t_17 L2 - https://doi.org/10.1002/ajmg.a.30858 DB - PRIME DP - Unbound Medicine ER -