Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Mol Med Rep
; 16(6): 8808-8818, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-29039589
ABSTRACT
Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10yearold boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 yearold girl with developmental delay, gross motor milestone delay and dysmorphic features. Arraycomparative genomic hybridization analysis revealed that partial chromosome 8p monosomy extended from 8p23.2 to 8pter (4.8 Mb) in Patient 1 and from 8p23.1 to 8pter (9.5 Mb) in Patient 2, and partial chromosome 16 trisomy extended from 16q23.3 to 16qter (5.6 Mb) in Patient 1 and from 16q23.1 to 16qter (11.7 Mb) in Patient 2. The mechanism of appearance of the rearrangement in association with the genes involved and the architecture of the region is discussed.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
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Deficiências do Desenvolvimento
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Deleção Cromossômica
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Hibridização Genômica Comparativa
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Estudos de Associação Genética
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Mol Med Rep
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Grécia