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Literature DB >> 1176129

A male infant with monosomy 21.

Y Kaneko, T Ikeuchi, M Sasaki, Y Stakae, S Kuwajima.

Abstract

A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.

Entities: Disease Species

Mesh：

Substances：
Blood Group Antigens

Year: 1975 PMID： 1176129 DOI： 10.1007/bf00273344

Source DB: PubMed Journal: Humangenetik ISSN： 0018-7348

21 in total

1. [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors: J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal: C R Hebd Seances Acad Sci Date: 1964-11-30

2. Apparent monosomy of a G autosome in a Jamaican infant.

Authors: M J Thorburn; B E Johnson
Journal: J Med Genet Date: 1966-12 Impact factor: 6.318

3. A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors: J Sehested
Journal: Humangenetik Date: 1974-01-22

4. An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

Authors: B Dutrillaux; J Jonasson; K Laurèn; J Lejeune; J Lindsten; G B Petersen; P Saldaña-Garcia
Journal: Ann Genet Date: 1973-03

5. Monosomy of chromosome No. 22. A case report.

Authors: F DeCicco; M W Steele; S Pan; S C Park
Journal: J Pediatr Date: 1973-11 Impact factor: 4.406

6. Monosomy 21 in spontaneous abortus.

Authors: K Ohama; T Kajii
Journal: Humangenetik Date: 1972

7. An 18p21q translocation in a patient with presumptive "monosomy G".

Authors: M M Cohen; T I Putnam
Journal: Am J Dis Child Date: 1972-12

8. A "G" deletion syndrome anti-mongolism.

Authors: H G Richmond; P MacArthur; D Hunter
Journal: Acta Paediatr Scand Date: 1973-03

9. A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

Authors: U Gripenberg; J Elfving; L Gripenberg
Journal: J Med Genet Date: 1972-03 Impact factor: 6.318

10. The G deletion syndromes.

Authors: R J Warren; D L Rimoin
Journal: J Pediatr Date: 1970-10 Impact factor: 4.406

11 in total

1. Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

Authors: A Schinzel
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

A male infant with monosomy 21.

1. [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

2. Apparent monosomy of a G autosome in a Jamaican infant.

3. A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

4. An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

5. Monosomy of chromosome No. 22. A case report.

6. Monosomy 21 in spontaneous abortus.

7. An 18p21q translocation in a patient with presumptive "monosomy G".

8. A "G" deletion syndrome anti-mongolism.

9. A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

10. The G deletion syndromes.

1. Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

2. A female infant with monosomy 21.

3. Full monosomy 21: a clinically recognizable syndrome?

4. Monosomy 21: a new case confirmed by in situ hybridization.

5. Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

6. Hypogammaglobulinaemia in a patient with ring chromosome 21.

Review 7. The chromosomes of man--clinical and biologic significance. A review.

8. A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

9. 21-Monosomy in a liveborn male infant.

10. Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.