A boy with developmental delay and a maternally inherited deletion in 15q11q13.
AUTOR(ES)
King, M
RESUMO
A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050616Documentos Relacionados
- Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
- Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
- Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
- Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
- A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
