Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Cat-eye syndrome, a partial trisomy 22.

Literature DB >> 5049068

Cat-eye syndrome, a partial trisomy 22.

E M Bühler, K Méhes, H Müller, G R Stalder.

Abstract

Entities: Disease

Mesh：

Substances：
Blood Group Antigens

Year: 1972 PMID： 5049068 DOI： 10.1007/bf00295742

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

× No keyword cloud information.

18 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. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors: G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal: Lancet Date: 1965-08-07 Impact factor: 79.321

3. Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

Authors: H ZELLWEGER; K MIKAMO; G ABBO
Journal: Helv Paediatr Acta Date: 1962

4. 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

5. "Cat eye" syndrome with normal chromosomes.

Authors: R L Neu; S R Assemany; L I Gardner
Journal: Lancet Date: 1970-05-02 Impact factor: 79.321

6. Extra chromosome in "cat eye" syndrome.

Authors: R A Pfeiffer; K Heimann; E Heiming
Journal: Lancet Date: 1970-07-11 Impact factor: 79.321

7. Urinary excretion of beta-aminoisobutyric acid in Down's syndrome and in idiopathic mental retardation.

Authors: L Klujber; P Cholnoky; K Méhes
Journal: Hum Hered Date: 1969 Impact factor: 0.444

8. Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.

Authors: F M Weber; R R Dooley; R S Sparkes
Journal: J Pediatr Date: 1970-04 Impact factor: 4.406

9. A child with partial deletion of a G-group autosome.

Authors: L E Reisman; A Darnell; J W Murphy; B Hall; S Kasahara
Journal: Am J Dis Child Date: 1967-09

10. Nuclear projections in neutrophils.

Authors: K Méhes
Journal: Blood Date: 1966-10 Impact factor: 22.113

19 in total

1. Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors: R H Lindenbaum; M Bobrow
Journal: J Med Genet Date: 1975-03 Impact factor: 6.318

2. A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique,.

Authors: T Maeda; M Ohno; N Shimada; M Nishida; T Jobo
Journal: Hum Genet Date: 1976-02-29 Impact factor: 4.132

3. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

Authors: E Kessel; R A Pfeiffer
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

Cat-eye syndrome, a partial trisomy 22.

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

2. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

3. Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

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

5. "Cat eye" syndrome with normal chromosomes.

6. Extra chromosome in "cat eye" syndrome.

7. Urinary excretion of beta-aminoisobutyric acid in Down's syndrome and in idiopathic mental retardation.

8. Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.

9. A child with partial deletion of a G-group autosome.

10. Nuclear projections in neutrophils.

1. Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

2. A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique,.

3. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

4. Trisomy 22 mosaicism.

5. Supernumerary small ring chromosome.

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

7. Trisomy of the short arm of chromosome 17.

8. Forty four probands with an additional "marker" chromosome.

9. The aetiology of the cat eye syndrome reconsidered.

Review 10. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].