Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

Freitas, Érika L

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. [electronic resource] - American journal of medical genetics. Part A Nov 2011 - 2754-61 p. digital

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

1552-4833

10.1002/ajmg.a.34168 doi


Abnormal Karyotype
Adolescent
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 20--genetics
Chromosomes, Human, Pair 9--genetics
Comparative Genomic Hybridization--methods
DNA Copy Number Variations
Developmental Disabilities--genetics
Forkhead Transcription Factors--genetics
Genome, Human
Guanine Nucleotide Exchange Factors--genetics
Humans
In Situ Hybridization, Fluorescence
Inheritance Patterns
Intellectual Disability--genetics
Male
Metaphase
Physical Examination
Trisomy--diagnosis