Down-Turner syndrome: case report and review.

doi:10.1136/jmg.31.10.807

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Article

Down-Turner syndrome: case report and review.

Journal of medical genetics - 1 Oct 1994

Van Buggenhout G J, Hamel B C, Trommelen J C, Mieloo H, Smeets D F

Abstract excerpt

We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of...

Topics

Chromosome Banding
Down Syndrome
Female
Genitalia, Female
Humans
Lymphocytes
Male
Middle Aged
Mosaicism
Noonan Syndrome
Phenotype
X Chromosome
Y Chromosome

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