A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

Lebedev, Igor N; Nazarenko, Lyudmila P; Skryabin, Nikolay A; Babushkina, Nadezhda P; Kashevarova, Anna A

Lebedev, Igor N; Nazarenko, Lyudmila P; Skryabin, Nikolay A; Babushkina, Nadezhda P; Kashevarova, Anna A.

Affiliation

Lebedev IN; Institute of Medical Genetics, Tomsk, Russia.
Nazarenko LP; National Research Tomsk State University, Tomsk, Russia.
Skryabin NA; Siberian State Medical University, Tomsk, Russia.
Babushkina NP; Institute of Medical Genetics, Tomsk, Russia.
Kashevarova AA; Siberian State Medical University, Tomsk, Russia.

Am J Med Genet A ; 170(8): 2089-96, 2016 08.

Article in En | MEDLINE | ID: mdl-27288323

Subject(s)

Chromosomes, Human, Pair 4; Colon, Sigmoid/abnormalities; Developmental Disabilities/genetics; Hemangioma/genetics; Phenotype; Speech Disorders/genetics; Trisomy; Child, Preschool; Chromosome Banding; Chromosome Deletion; Comparative Genomic Hybridization; DNA Copy Number Variations; Facies; Female; Genetic Association Studies; Hemangioma/diagnosis; Humans; Speech Disorders/diagnosis; Syndrome

Key words

4q21 microtriplication; absence of speech; array comparative genomic hybridization; developmental delay; elongated sigmoid colon; mirrored phenotypes; vascular malignant hemangioma

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Colon, Sigmoid / Speech Disorders / Trisomy / Chromosomes, Human, Pair 4 / Developmental Disabilities / Hemangioma Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: RUSSIA Country of publication: United States

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