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Menkes syndrome in a girl with X-autosome translocation

✍ Scribed by Kapur, Saroj ;Higgins, James V. ;Delp, Kathleen ;Rogers, Brian ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
431 KB
Volume
26
Category
Article
ISSN
0148-7299

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Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3)

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A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi