De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris

Genetic Counseling

Volumn 12, Issue 2, 2001, Pages 151-156

  Barajas Barajas, L O ^a   Velarde Felix S ^a   Elizarraras Rivas J ^a   Hernandez Zaragoza G ^a   Vazquez Herrera J A ^a  

^a Sistema DIF Jalisco   (Mexico)

Author keywords

Coloboma of iris; Hypoplastic thumb; Phenotype; Ring chromosome 3

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3; FEMALE; HUMAN; IRIS COLOBOMA; KARYOTYPE; PHALANX HYPOPLASIA; PHENOTYPE; SHORT STATURE; THUMB MALFORMATION;

CHILD; CHROMOSOMES, HUMAN, PAIR 3; COLOBOMA; FEMALE; HUMANS; IRIS DISEASES; KARYOTYPING; MALE; RING CHROMOSOMES; THUMB;

EID: 0034952542     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Terminal deletion of the short arm of chromosome 2, informative for acid phosphatase (ACPl), malate dehydrogenase (MDHl), and coloboma of iris loci
2. A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29)
3. Does ring syndromeǐ exist? An analysis of 207 case reports on patients with a ring autosome
4. Cornelia de Lange syndrome with ring chromosome 3
5. De novo ring chromosome 3: A new case with a mild phenotype
6. Loss of the 3p25.3 band is critical in the manifestation of del (3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
7. Human ring chromosomes: A report of five cases
8. Chromosome 3 en anneau chez un adulte nain et retardÈ mental
9. Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3,7)(p21;q22)
10. A patient with interstitial deletion of the short arm of chromosome 3(pter/Ep21.2::p12/Eqter) and a CHARGE-like phenotype
11. The phenotype of ring chromosome 3
12. Ring chromosome 3 in a retarded boy
13. Chromosome 3p23 break with ring formation and translocation of displaced 3p23/Epter segment to 6pter