Literature DB >> 4719634

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

H Van den Berghe, M Van Eygen, J P Fryns, W Tanghe, H Verresen.   

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Year:  1973        PMID： 4719634     DOI： 10.1007/BF00290601

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


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  20 in total

1.  RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM.

Authors:  R R GORDON; P COOKE
Journal:  Lancet       Date:  1964-12-05       Impact factor: 79.321

2.  Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome.

Authors:  J J YUNIS; R J GORLIN
Journal:  Chromosoma       Date:  1963       Impact factor: 4.316

3.  Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

Authors:  K PATAU; E THERMAN; S L INHORN; D W SMITH; A L RUESS
Journal:  Chromosoma       Date:  1961       Impact factor: 4.316

4.  [Chromosome abnormalities in spontaneous abortion].

Authors:  E Golob; P Fischer; H Holzner
Journal:  Wien Klin Wochenschr       Date:  1969-10-17       Impact factor: 1.704

5.  A large deletion of chromosome no. 1 (46,XY,1?--).

Authors:  D Aarskog
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

6.  Probable pericentric inversion in chromosome no. 1 in a female child (46,XX,inv(Ip+q-).

Authors:  A V Mikelsaar; E V Ananjev; V M Gindilis
Journal:  Humangenetik       Date:  1970

7.  [Chromoosome 1 abnormality in a child with multiple malformations].

Authors:  C Ernould; A Hausman-Hagemeijer; S Lecomte-Ramioul; F Geubelle
Journal:  Acta Paediatr Belg       Date:  1968

8.  [Translocation of a part of chromosome 1 on chromosome 9-12 with a syndrome of congenital anomalies and mental deficiency].

Authors:  J Zaremba; K Zajaczkowska; T Abramowicz; I Wald
Journal:  Pol Tyg Lek       Date:  1965-05-31

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.  Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-1 in man.

Authors:  F Ruddle; F Ricciuti; F A McMorris; G Darlington; T Chen
Journal:  Science       Date:  1972-06-30       Impact factor: 47.728
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  14 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

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

Authors:  C G Palmer; J C Christian; A D Merritt
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

3.  Omphalocele and partial trisomy 1q syndrome.

Authors:  H Chen; J J Gershanik; J B Mailhes; I D Sanusi
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

4.  "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter.

Authors:  E Yunis; H Egel; R Zúñiga; E Ramirez; O M Torres de Caballero; M Leibovici
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

5.  Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26).

Authors:  A Bonfante; M Stella; G Rossi
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

6.  Monosomy 1pter.

Authors:  E Yunis; L Quintero; M Leibovici
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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

Authors:  M Bene; A Duca-Marinescu; D Ioan; C Maximilian
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

8.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

9.  Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+).

Authors:  K Taysi; G S Sekhon
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

10.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132
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