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Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
J Assoc Genet Technol 2017; 43(2):56-58JA

Abstract

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

Authors+Show Affiliations

Brar R
Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
Basel DG
Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
Bick DP
Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin and The Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
Weik L
Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin.
vanTuinen P
Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Peterson JF
Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28511170

Citation

Brar, Randeep, et al. "Mosaic Trisomy 9p in a Patient With Mild Dysmorphic Features and Normal Intelligence." Journal of the Association of Genetic Technologists, vol. 43, no. 2, 2017, pp. 56-58.
Brar R, Basel DG, Bick DP, et al. Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. J Assoc Genet Technol. 2017;43(2):56-58.
Brar, R., Basel, D. G., Bick, D. P., Weik, L., vanTuinen, P., & Peterson, J. F. (2017). Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. Journal of the Association of Genetic Technologists, 43(2), pp. 56-58.
Brar R, et al. Mosaic Trisomy 9p in a Patient With Mild Dysmorphic Features and Normal Intelligence. J Assoc Genet Technol. 2017;43(2):56-58. PubMed PMID: 28511170.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. AU - Brar,Randeep, AU - Basel,Donald G, AU - Bick,David P, AU - Weik,LuAnn, AU - vanTuinen,Peter, AU - Peterson,Jess F, PY - 2017/5/17/entrez PY - 2017/5/17/pubmed PY - 2017/5/17/medline SP - 56 EP - 58 JF - Journal of the Association of Genetic Technologists JO - J Assoc Genet Technol VL - 43 IS - 2 N2 - To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014). SN - 1523-7834 UR - https://www.unboundmedicine.com/medline/citation/28511170/Mosaic_Trisomy_9p_in_a_Patient_with_Mild_Dysmorphic_Features_and_Normal_Intelligence DB - PRIME DP - Unbound Medicine ER -