Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-mb deletion of 14q12 q21.2 and a 550-kb deletion of 18p11.23: Microarray delineation of an unbalanced chromosome rearrangement and a literature review
Genetic Counseling, cilt.27, sa.2, ss.165-176, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 27 Sayı: 2
- Basım Tarihi: 2016
- Dergi Adı: Genetic Counseling
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.165-176
- Anahtar Kelimeler: Chromosome 18 deletions, Microarray analysis, Proximal 14q deletion, Translocation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-mb deletion of 14q12 q21.2 and a 550-kb deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review: This paper describes the presence of a 15.4 Mb deletion of 14q 12 q21.2 and a 550 kb deletion of 18p1 1.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t(14; 18) (q12; p11)]. The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, nystagmus, a depressed nasal bridge, down-turned corners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases. Cranial MRI revealed agenesis of the corpus callosum, diffuse cerebral atrophy, and enlargement of the third and lateral ventricles. Here, we review and compare published cases with proximal 14q deletions to establish a genotype-phenotype correlation according to the deleted regions involving the 14q12, 14q13, 14q21, and 14q22q23. We also examined the literature to find cases with deleted regions overlapping the deletion in our patient to establish a clinical spectrum in proximal 14q deletions.