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Literature DB >> 885536

Full monosomy 21: a clinically recognizable syndrome?

J P Fryns, F D'Hondt, P Goddeeris, H van den Berghe.

Abstract

A female newborn with multiple malformations and with full monosomy 21 is described. Clinical resemblance to the three cases described in the literature is striking.

Entities: Disease

Mesh：

Year: 1977 PMID： 885536 DOI： 10.1007/bf00393578

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

15 in total

1. A male infant with monosomy 21.

Authors: Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal: Humangenetik Date: 1975-08-29

2. [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

3. 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

4. A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-.

Authors: J G Davis; E C Jenkins; H P Klinger; R G Weed
Journal: Cytogenet Cell Genet Date: 1976

5. Monosomy 21 in spontaneous abortus.

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

6. 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

7. Monosomy of a G chromosome in spontaneous abortions.

Authors: S L Larson; L A Aaro; J L Titus
Journal: Am J Obstet Gynecol Date: 1970-02-15 Impact factor: 8.661

8. The G deletion syndromes.

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

9. [The r(22) syndrome, Apropos of 4 new cases].

Authors: M O Rethore; B Noël; J Couturier; M Prieur; J Lafourcade; J Lejeune
Journal: Ann Genet Date: 1976-06

10. Chromosome studies in selected spontaneous abortions. IV. Unusual cytogenetic disorders.

Authors: D H Carr; E M Law; J G Ekins
Journal: Teratology Date: 1972-02

15 in total

1. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors: R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal: Mol Syndromol Date: 2010-09-14

Full monosomy 21: a clinically recognizable syndrome?

1. A male infant with monosomy 21.

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

3. 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).

4. A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-.

5. Monosomy 21 in spontaneous abortus.

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

7. Monosomy of a G chromosome in spontaneous abortions.

8. The G deletion syndromes.

9. [The r(22) syndrome, Apropos of 4 new cases].

10. Chromosome studies in selected spontaneous abortions. IV. Unusual cytogenetic disorders.

1. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

2. Homologous Robertsonian translocation (21q21q) and abortions.

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

4. A low frequency mosaicism for monosomy 21 in a live born female.

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.

7. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Review 8. Absence makes the search grow longer.

9. 21-Monosomy in a liveborn male infant.

10. Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.