Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.

Fernández, Raquel M

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. [electronic resource] - American journal of medical genetics. Part A May 2016 - 1268-73 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.37559 doi


Adult
Child
Chromosome Deletion
Chromosome Disorders--genetics
Chromosomes, Human, Pair 10--genetics
Comparative Genomic Hybridization
Developmental Disabilities--genetics
DiGeorge Syndrome--genetics
Gene Deletion
Hearing Loss, Sensorineural--genetics
Humans
Hypoparathyroidism--genetics
In Situ Hybridization, Fluorescence
Karyotyping
Male
Nephrosis--genetics