Literature DB >> 1218860

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

A Schinzel, K Hayashi, W Schmid.   

Abstract

A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).

Entities:  

Mesh：

Year:  1975        PMID： 1218860     DOI： 10.1007/bf00275143

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


  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.  Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13).

Authors:  C Stoll; J M Levy; A Gardea
Journal:  Humangenetik       Date:  1975

3.  A case of trisomy 9p in a family with translocation 9/15.

Authors:  P Balícek; J Zizka; J Lichý
Journal:  Humangenetik       Date:  1975

4.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors:  C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

5.  A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

Authors:  E Orye; H Verhaaren; H Van Egmond; A Devloo-Blancquaert
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

6.  Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.

Authors:  P E Podruch; B Weisskopf
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

7.  Prenatal diagnosis of an inherited translocation between chromosomes No. 9 and 18.

Authors:  A J Ebbin; M G Wilson; J W Towner; J P Slaughter
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

8.  [Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].

Authors:  D Ghymers; B Hermann; C Distèche; J Frederic
Journal:  Humangenetik       Date:  1973-12-10

9.  [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors:  M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal:  Ann Genet       Date:  1970-12

10.  Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.

Authors:  H Fujita; T Abe; K Yamamoto; J Furuyama
Journal:  Humangenetik       Date:  1974
View more
  3 in total

1.  De novo trisomy 9pter leads to q13.

Authors:  N B Kardon; H R Salwen; M A Krauss; J G Davis; E C Jenkins
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

2.  Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

Authors:  M Tolksdorf; J Kunze; G Gross-Selbeck; K Sperling; R D Wegner; V Wieczorek; M Vogel
Journal:  Eur J Pediatr       Date:  1977-08-23       Impact factor: 3.183

Review 3.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.