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Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
Am J Med Genet A 2011; 155A(6):1384-9AJ

Abstract

Partial trisomy 9q involving the duplication of band 9q22 is manifested by a constellation of symptoms including short stature, intellectual disability, microcephaly, pyloric stenosis, facial dysmorphism, and various defects of the heart, distal extremities, eyes, thyroid, and esophagus. In three family members with growth retardation, mild intellectual disability, and mild facial dysmorphism, array-based comparative genomic hybridization analyses showed a familial microduplication at 9q22.3. On the basis of the described functions of the duplicated genes, PTCH1 represents a candidate gene that may be responsible for the phenotypic findings, although the 14 other genes in this duplicated segment may also contribute to the phenotype. The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region.

Authors+Show Affiliations

Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA. izumik1@email.chop.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21567912

Citation

Izumi, Kosuke, et al. "Familial 9q22.3 Microduplication Spanning PTCH1 Causes Short Stature Syndrome With Mild Intellectual Disability and Dysmorphic Features." American Journal of Medical Genetics. Part A, vol. 155A, no. 6, 2011, pp. 1384-9.
Izumi K, Hahn A, Christ L, et al. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. Am J Med Genet A. 2011;155A(6):1384-9.
Izumi, K., Hahn, A., Christ, L., Curtis, C., & Neilson, D. E. (2011). Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. American Journal of Medical Genetics. Part A, 155A(6), pp. 1384-9. doi:10.1002/ajmg.a.33959.
Izumi K, et al. Familial 9q22.3 Microduplication Spanning PTCH1 Causes Short Stature Syndrome With Mild Intellectual Disability and Dysmorphic Features. Am J Med Genet A. 2011;155A(6):1384-9. PubMed PMID: 21567912.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. AU - Izumi,Kosuke, AU - Hahn,Amanda, AU - Christ,Laurie, AU - Curtis,Christine, AU - Neilson,Derek E, Y1 - 2011/05/12/ PY - 2009/12/30/received PY - 2011/01/26/accepted PY - 2011/5/14/entrez PY - 2011/5/14/pubmed PY - 2011/9/21/medline SP - 1384 EP - 9 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 6 N2 - Partial trisomy 9q involving the duplication of band 9q22 is manifested by a constellation of symptoms including short stature, intellectual disability, microcephaly, pyloric stenosis, facial dysmorphism, and various defects of the heart, distal extremities, eyes, thyroid, and esophagus. In three family members with growth retardation, mild intellectual disability, and mild facial dysmorphism, array-based comparative genomic hybridization analyses showed a familial microduplication at 9q22.3. On the basis of the described functions of the duplicated genes, PTCH1 represents a candidate gene that may be responsible for the phenotypic findings, although the 14 other genes in this duplicated segment may also contribute to the phenotype. The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21567912/Familial_9q22_3_microduplication_spanning_PTCH1_causes_short_stature_syndrome_with_mild_intellectual_disability_and_dysmorphic_features_ L2 - https://doi.org/10.1002/ajmg.a.33959 DB - PRIME DP - Unbound Medicine ER -