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Literature DB >> 879169

Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.

Abstract

Transposition of 1q31-1q32 from the q to p arm in a parent followed by crossing over resulted in a child with a duplication of this region. Concomitant C- and GTG-banding and genotyping were used to position the single crossover and to localize Fy to 1q2.

Entities: Gene Species

Mesh：

Substances：

Year: 1977 PMID： 879169 PMCID： PMC1685379

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

10 in total

1. Fetal loss and familial chromosome 1 translocations.

Authors: J H Garrett; S C Finley; W H Finley
Journal: Clin Genet Date: 1975-11 Impact factor: 4.438

2. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

Authors: M Koivisto; H K Akerblom; M Remes; A de La Chapelle
Journal: Acta Paediatr Scand Date: 1976-07

3. Trisomy of the long arm of human chromosome 1.

Authors: T H Norwood; H Hoehn
Journal: Humangenetik Date: 1974

4. Autosomal reciprocal translocations in newborn children and their relatives.

Authors: U Friedrich; J Nielsen
Journal: Humangenetik Date: 1974-02-21

5. Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.

Authors: H Van den Berghe; M Van Eygen; J P Fryns; W Tanghe; H Verresen
Journal: Humangenetik Date: 1973-05-25

6. A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation.

Authors: R L Neu; L I Gardner
Journal: Clin Genet Date: 1973-06 Impact factor: 4.438

7. An inherited 1;G translocation.

Authors: A J Ebbin; M G Wilson; J W Towner; I Forsman
Journal: J Med Genet Date: 1971-12 Impact factor: 6.318

8. Linkage relationships of 1qh to Amy, Fy, PGM1, and Rh.

Authors: M L Rivas; P M Conneally; F Hecht; E W Lovrien; E Magenis; A D Merritt; D A Meyers; C G Palmer; L Wang
Journal: Birth Defects Orig Artic Ser Date: 1975

9. A 1/G translocation in a member of a kindred with a marker chromosome.

Authors: N H Maganias; L Archambault; K L Becker; J L Winnacker
Journal: Arch Intern Med Date: 1967-03

10. Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1.

Authors: W L Marsh; R S Chaganti; F H Gardner; K Mayer; P C Nowell; J German
Journal: Science Date: 1974-03-08 Impact factor: 47.728

10 in total

12 in total

Review 1. Intrachromosomal insertions: a case report and a review.

Authors: K Madan; F H Menko
Journal: Hum Genet Date: 1992-04 Impact factor: 4.132

2. Micro-duplications of 1q32.1 associated with neurodevelopmental delay.

Authors: H E Olson; Y Shen; A Poduri; M P Gorman; K A Dies; M Robbins; R Hundley; B Wu; M Sahin
Journal: Eur J Med Genet Date: 2012-01-02 Impact factor: 2.708

3. Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome No. 1 by means of a new fragile site at 1p31.

Authors: J Herbich; J Szilvassy; W Schnedl
Journal: Hum Genet Date: 1985 Impact factor: 4.132

Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.

1. Fetal loss and familial chromosome 1 translocations.

2. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

3. Trisomy of the long arm of human chromosome 1.

4. Autosomal reciprocal translocations in newborn children and their relatives.

5. Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.

6. A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation.

7. An inherited 1;G translocation.

8. Linkage relationships of 1qh to Amy, Fy, PGM1, and Rh.

9. A 1/G translocation in a member of a kindred with a marker chromosome.

10. Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1.

Review 1. Intrachromosomal insertions: a case report and a review.

2. Micro-duplications of 1q32.1 associated with neurodevelopmental delay.

3. Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome No. 1 by means of a new fragile site at 1p31.

4. Possible trisomy 1q25 leads to 1q32 in a malformed girl with a de novo insertion in 1q.

5. Omphalocele and partial trisomy 1q syndrome.

6. Monosomy 1pter.

7. De novo interstitial deletion del(1)(p21p32).

8. Pure partial trisomy of the short arm of chromosome 5.

9. Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4.

10. Cytogenetics of an intrachromosomal transposition in Neurospora.