PMID- 24551985
OWN - NLM
STAT- MEDLINE
DCOM- 20140312
LR  - 20140220
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 24
IP  - 4
DP  - 2013
TI  - Ring chromosome 15: expanding the phenotype.
PG  - 417-25
AB  - Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the 
      literature to date. We report the clinical and cytogenetic evaluation of a 
      patient with ring chromosome 15. Diagnostic tests including echocardiography, 
      abdominal ultrasound, brain computerized tomography (CT), magnetic resonance 
      imaging (MRI) and electroencephalogram (EEG) were done. Clinical examination of 
      the patient revealed the characteristic features of ring chromosome 15, such as 
      growth retardation, hypertelorism, frontal bossing, a highly arched palate, small 
      hands and feet and cafe-au-lait spots. In addition, the patient presented with a 
      mild intellectual disability, a congenital atrial septal heart defect, and 
      abnormal EEG records. We also report 2 novel findings, which to our knowledge; 
      have not been reported before in ring chromosome 15 patients: large areas of 
      hyperpigmentation on the front of both legs and feet and hypogenesis of the 
      corpus callosum. Cytogenetic studies using both conventional G-banding and 
      fluorescence in situ hybridization (FISH) with a Sub Tel 15q probe confirmed the 
      diagnosis of ring chromosome 15.
FAU - Eid, M M
AU  - Eid MM
AD  - Human Cytogenetics Department, National Research Centre, Egypt.
FAU - El-Bassyouni, H T
AU  - El-Bassyouni HT
AD  - Clinical Genetics Department, National Research Centre, Egypt.
FAU - Eid, O M
AU  - Eid OM
AD  - Human Cytogenetics Department, National Research Centre, Egypt.
FAU - Hamad, S A
AU  - Hamad SA
AD  - Human Cytogenetics Department, National Research Centre, Egypt.
FAU - Elgerzawy, A
AU  - Elgerzawy A
AD  - Human Cytogenetics Department, National Research Centre, Egypt.
FAU - Zaki, M S
AU  - Zaki MS
AD  - Clinical Genetics Department, National Research Centre, Egypt.
FAU - El-Ruby, M
AU  - El-Ruby M
AD  - Clinical Genetics Department, National Research Centre, Egypt.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
RN  - Chromosome 15 ring
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Agenesis of Corpus Callosum/genetics
MH  - Child, Preschool
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Female
MH  - Humans
MH  - Hyperpigmentation/genetics
MH  - Mosaicism
MH  - *Phenotype
MH  - Ring Chromosomes
EDAT- 2014/02/21 06:00
MHDA- 2014/03/13 06:00
CRDT- 2014/02/21 06:00
PHST- 2014/02/21 06:00 [entrez]
PHST- 2014/02/21 06:00 [pubmed]
PHST- 2014/03/13 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2013;24(4):417-25.