Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.Turk J Pediatr. 2009 May-Jun; 51(3):294-7.TJ
Abstract
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
19817277
Citation
Simşek, Pelin Ozlem, et al. "Rare Sex Chromosome Aneuploidies: 49,XXXXY and 48,XXXY Syndromes." The Turkish Journal of Pediatrics, vol. 51, no. 3, 2009, pp. 294-7.
Simşek PO, Utine GE, Alikaşifoğlu A, et al. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr. 2009;51(3):294-7.
Simşek, P. O., Utine, G. E., Alikaşifoğlu, A., Alanay, Y., Boduroğlu, K., & Kandemir, N. (2009). Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. The Turkish Journal of Pediatrics, 51(3), 294-7.
Simşek PO, et al. Rare Sex Chromosome Aneuploidies: 49,XXXXY and 48,XXXY Syndromes. Turk J Pediatr. 2009 May-Jun;51(3):294-7. PubMed PMID: 19817277.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.
AU - Simşek,Pelin Ozlem,
AU - Utine,Gülen Eda,
AU - Alikaşifoğlu,Ayfer,
AU - Alanay,Yasemin,
AU - Boduroğlu,Koray,
AU - Kandemir,Nurgün,
PY - 2009/10/13/entrez
PY - 2009/10/13/pubmed
PY - 2009/10/30/medline
SP - 294
EP - 7
JF - The Turkish journal of pediatrics
JO - Turk J Pediatr
VL - 51
IS - 3
N2 - 49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.
SN - 0041-4301
UR - https://www.unboundmedicine.com/medline/citation/19817277/Rare_sex_chromosome_aneuploidies:_49XXXXY_and_48XXXY_syndromes_
L2 - http://www.diseaseinfosearch.org/result/45
DB - PRIME
DP - Unbound Medicine
ER -