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Literature DB >> 964983

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Abstract

The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 964983 DOI： 10.1007/BF00286845

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

17 in total

1. NUCLEAR ABNORMALITIES OF THE NEUTROPHILS IN D1 (13-15)-TRISOMY SYNDROME.

Authors: E R HUEHNS; M LUTZNER; F HECHT
Journal: Lancet Date: 1964-03-14 Impact factor: 79.321

2. DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME.

Authors: E R HUEHNS; F HECHT; J V KEIL; A G MOTULSKY
Journal: Proc Natl Acad Sci U S A Date: 1964-01 Impact factor: 11.205

3. Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors: P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal: Exp Cell Res Date: 1960-09 Impact factor: 3.905

4. [Partial 13 trisomy by maternal 46, XX, t (3; 13) (p 26; q 21) translocation].

Authors: C Stoll; A Halb
Journal: Pediatrie Date: 1974 Oct-Nov

5. Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors: A Schinzel; W Schmid
Journal: Humangenetik Date: 1974

6. Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

Authors: T Talvik; A V Mikelsaar; R Mikelsaar; M Käosaar; S Tüür
Journal: Humangenetik Date: 1973-09-20

7. Localization of genes on chromosome 13: analysis of two kindreds.

Authors: G E Bloom; P S Gerald
Journal: Am J Hum Genet Date: 1968-11 Impact factor: 11.025

8. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors: A I Taylor
Journal: J Med Genet Date: 1968-09 Impact factor: 6.318

9. An inherited chromosome aberration in a girl with signs of de Lange syndrome.

Authors: K A Broholm; O Eeg-Olofsson; B Hall
Journal: Acta Paediatr Scand Date: 1968-11

10. A family with balanced D1-Cs-translocation carriers and unbalanced offspring.

Authors: G R Stalder; E M Buhler; G Gadola; R Widmer; F Freuler
Journal: Humangenetik Date: 1964

17 in total

1. Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Authors: T Ogata; K Muroya; N Matsuo; J Hata; Y Fukushima; Y Suzuki
Journal: J Med Genet Date: 1997-04 Impact factor: 6.318

10. Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development.

Authors: J S Fuqua; E S Sher; E J Perlman; M D Urban; M Ghahremani; J Pelletier; C J Migeon; T R Brown; G D Berkovitz
Journal: Hum Genet Date: 1996-04 Impact factor: 4.132

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

1. NUCLEAR ABNORMALITIES OF THE NEUTROPHILS IN D1 (13-15)-TRISOMY SYNDROME.

2. DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME.

3. Chromosome preparations of leukocytes cultured from human peripheral blood.

4. [Partial 13 trisomy by maternal 46, XX, t (3; 13) (p 26; q 21) translocation].

5. Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

6. Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

7. Localization of genes on chromosome 13: analysis of two kindreds.

8. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

9. An inherited chromosome aberration in a girl with signs of de Lange syndrome.

10. A family with balanced D1-Cs-translocation carriers and unbalanced offspring.

1. Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

Review 2. Molecular determinants of sexual differentiation.

Review 3. Eleven new cases of del(9p) and features from 80 cases.

4. Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Review 5. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

6. Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

7. Deletion 9p and sex reversal.

8. The aetiology of the cat eye syndrome reconsidered.

9. Global survey of protein expression during gonadal sex determination in mice.

10. Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development.