First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.

Starke, Heike

First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16. [electronic resource] - American journal of medical genetics. Part A Jan 2003 - 26-30 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.10830 doi


Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 21--genetics
Chromosomes, Human, Pair 4--genetics
Down Syndrome--genetics
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Trisomy
Uniparental Disomy