PMID- 10594875
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 87
IP  - 5
DP  - 1999 Dec 22
TI  - Clinical, cytogenetic, and fluorescence in situ hybridization findings in two 
      cases of "complete ring" syndrome.
PG  - 384-90
AB  - The term "ring syndrome" was proposed to describe a phenotype of growth failure 
      without major malformations due to a ring autosome. The growth failure is thought 
      to be caused by instability of the ring chromosome leading to aneusomy and cell 
      death. Most previous studies of ring chromosomes were based on standard 
      cytogenetic banding techniques and were limited to microscopically detectable 
      deletions in the ring chromosomes. We report on two patients with complete ring 
      (4) and ring (9) chromosomes, respectively. The first was a 15-month-old girl and 
      the second was a 16-month-old boy. They both presented with severe, symmetrical 
      growth failure and normal psychomotor development in the absence of 
      malformations. Their parents had a normal phenotype. The first case had a whorled 
      pattern of hyperpigmentation and hypopigmentation on part of the face and chest, 
      and the second case had a patchy hyperpigmented rash on the trunk. Peripheral 
      blood karyotype of the first patient was 46,XX, r(4)(p16.3q35.2) and of the 
      second 45,XY,-9/46,XY,r(9)(p24q34.3). G-band analysis suggested no loss of 
      material in the ring chromosomes. These findings were confirmed by fluorescence 
      in situ hybridization (FISH) analysis using chromosome-specific subtelomeric 
      probes. The common human telomeric sequences were intact in the first patient but 
      absent in the second patient. The cytogenetic and FISH data in our two cases 
      provide further evidence for the existence of a "complete ring" phenotype 
      independent of the autosome involved. Pigmentary skin changes are a useful 
      clinical sign of mosaicism caused by the ring instability.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Sigurdardottir, S
AU  - Sigurdardottir S
AD  - Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, 
      Baltimore, Maryland 21287-4922, USA.
FAU - Goodman, B K
AU  - Goodman BK
FAU - Rutberg, J
AU  - Rutberg J
FAU - Thomas, G H
AU  - Thomas GH
FAU - Jabs, E W
AU  - Jabs EW
FAU - Geraghty, M T
AU  - Geraghty MT
LA  - eng
GR  - HD24061/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - *Chromosomes, Human, Pair 4
MH  - *Chromosomes, Human, Pair 9
MH  - Developmental Disabilities/*genetics
MH  - Female
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Pigmentation Disorders/*genetics
MH  - *Ring Chromosomes
EDAT- 1999/12/14 09:00
MHDA- 2000/03/11 09:00
CRDT- 1999/12/14 09:00
PHST- 1999/12/14 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 1999/12/14 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R [pii]
AID - 10.1002/(sici)1096-8628(19991222)87:5<384::aid-ajmg3>3.0.co;2-r [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Dec 22;87(5):384-90. doi: 
      10.1002/(sici)1096-8628(19991222)87:5<384::aid-ajmg3>3.0.co;2-r.