Proximal trisomy 1q in a girl with developmental delay and minor anomalies

Autor:	Irma Slavutsky, Monica Rittler, Lilian Furforo
Rok vydání:	1996
Předmět:	Developmental Disabilities Macrocephaly Trisomy Anatomy Biology medicine.disease Narrow palate Palpebral fissure Chromosomes Human Pair 1 Child Preschool Karyotyping Gene duplication medicine Humans Female Tandem exon duplication medicine.symptom Abnormality Genetics (clinical) Facial symmetry
Zdroj:	American Journal of Medical Genetics. 64:551-555
ISSN:	1096-8628 0148-7299
Popis:	We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12--q21.3). This abnormality was suggested by G- and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication.
Databáze:	OpenAIRE
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