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Literature DB >> 939570

Parental origin of a ring 13 chromosome in a female with multiple anomalies.

R E Magenis, H E Wyandt, K M Overton, J Macfarlane.

Abstract

A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33). The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing.

Entities: Chemical Disease Gene Species

Mesh：

Year: 1976 PMID： 939570 DOI： 10.1007/bf00281894

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

8 in total

1. Ring chromosome 13 in a polymalformed anencephalic.

Authors: W Schmid; J P Mühlethaler; J Briner; H Knechtli
Journal: Humangenetik Date: 1975

2. Irregular phenotypic expression of ring chromosomes.

Authors: R Zdansky; M Andrle; E Bühler; T Tsuchimoto; W R Mayr; A Rett
Journal: Humangenetik Date: 1975

3. Ring chromosome 13 syndrome.

Authors: K Fried; M Rosenblatt; G Mundel; R Krikler
Journal: Clin Genet Date: 1975-03 Impact factor: 4.438

4. Ring chromosome D (13) associated with multiple congenital malformations.

Authors: E Niebuhr; J Ottosen
Journal: Ann Genet Date: 1973-09

5. Reexamination of a family with a t(13q14q) and a ring D(13) child.

Authors: E Niebuhr
Journal: Ann Genet Date: 1973-09

6. Malformative syndrome with ring chromosome 13.

Authors: J P Fryns; J Deoover; H Van den Berghe
Journal: Humangenetik Date: 1974

7. The behavior of ring chromosome 13.

Authors: J J Hoo; U Obermann; H Cramer
Journal: Humangenetik Date: 1974

8. Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.

Authors: R E Magenis; K Overton; H Wyandt; T Bergstrom; F Hecht; E Lovrien
Journal: Humangenetik Date: 1975

8 in total

6 in total

Parental origin of a ring 13 chromosome in a female with multiple anomalies.

1. Ring chromosome 13 in a polymalformed anencephalic.

2. Irregular phenotypic expression of ring chromosomes.

3. Ring chromosome 13 syndrome.

4. Ring chromosome D (13) associated with multiple congenital malformations.

5. Reexamination of a family with a t(13q14q) and a ring D(13) child.

6. Malformative syndrome with ring chromosome 13.

7. The behavior of ring chromosome 13.

8. Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.

1. Parental origin of de novo chromosome rearrangements.

2. A case of D13 ring chromosome.

3. Study of two cases of ring 13 chromosome using high-resolution banding.

Review 4. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Review 5. Distribution of break points in human structural rearrangements.

6. Clinical features in a case with ring chromosome 13.