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Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

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.

Links

Grapherence [↓2]

Authors+Show Affiliations

Simşek PO
,

Unit of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Utine GE
,
Alikaşifoğlu A
,
Alanay Y
,
Boduroğlu K
,
Kandemir N

Source

MeSH

Adolescent
Aneuploidy
Humans
Infant
Karyotyping
Klinefelter Syndrome
Male
Rare Diseases

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), pp. 294-7.
Simşek PO, et al. Rare Sex Chromosome Aneuploidies: 49,XXXXY and 48,XXXY Syndromes. Turk J Pediatr. 2009;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 - https://medlineplus.gov/rarediseases.html DB - PRIME DP - Unbound Medicine ER -