نتایج جستجو برای: 49 xxxxy

تعداد نتایج: 77403  

Journal: :Journal of medical genetics 1978
C L Levy R S Sparkes H E Carlson

In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome...

Journal: :The Turkish journal of pediatrics 2009
Pelin Ozlem Simşek Gülen Eda Utine Ayfer Alikaşifoğlu Yasemin Alanay Koray Boduroğlu Nurgün Kandemir

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 ...

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