Literature DB >> 47396

Deletion of the short arm of chromosome No. 10.

M H Shokeir, M Ray, J L Hamerton, F Bauder, H O'Brien.   

Abstract

A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome.

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Mesh:

Year:  1975        PMID: 47396      PMCID: PMC1013238          DOI: 10.1136/jmg.12.1.99

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  [PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].

Authors:  J DE GROUCHY; P ROYER; C SALMON; M LAMY
Journal:  Pathol Biol       Date:  1964-05

2.  [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

Authors:  J LEJEUNE; J LAFOURCADE; R BERGER; J VIALATTE; M BOESWILLWALD; P SERINGE; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1963-11-18

3.  CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME.

Authors:  J GERMAN; J LEJEUNE; M N MACINTYRE; J DE GROUCHY
Journal:  Cytogenetics       Date:  1964

4.  [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

5.  Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.

Authors:  O Alfi; G N Donnell; B F Crandall; A Derencsenyi; R Menon
Journal:  Ann Genet       Date:  1973-03

6.  Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

Authors:  M H Shokeir; K L Ying; P Pabello
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

7.  A case of?6p- chromosomal aberration.

Authors:  J De Grouchy; J Veslot; J Bonnette; M Roidot
Journal:  Am J Dis Child       Date:  1968-01

8.  [Deficiency on the short arms of a chromosome No. 4].

Authors:  U Wolf; H Reinwein; R Porsch; R Schröter; H Baitsch
Journal:  Humangenetik       Date:  1965

9.  New syndrome associated with partial deletion of short arms of chromosome No. 4. Clinical manifestations of hypospadias, beaked nose, abnormal iris, hemangioma of forehead, seizures, and other anomalies.

Authors:  J C Leão; G J Bargman; R L Neu; T Kajii; L I Gardner
Journal:  JAMA       Date:  1967-10-30       Impact factor: 56.272

  9 in total
  8 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

2.  MRI findings in a patient with partial monosomy 10p.

Authors:  F Sunada; F C Rash; D A Tam
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  New chromosomal dysmorphic syndromes. 2. Trisomy 10p.

Authors:  S Stengel-Rutkowski; J D Murken; R Frankenberger; M Riechert; H Spiess; A Rodewald; J Stene
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

4.  Partial monosomy 10p syndrome.

Authors:  J M Klep-de Pater; J B Bijlsma; F M Alkema
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

5.  Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.

Authors:  S Slinde; I L Hansteen
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

6.  The human complement after trypsin pretreatment as compared to the Paris standard.

Authors:  M Ray; N Canning; J L Hamerton
Journal:  Humangenetik       Date:  1975-08-29

7.  10p- syndrome associated with multiple chromosomal abnormalities.

Authors:  F Prieto; L Badia; J A Moreno; P Barbero; F Asensi
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

8.  Partial monosomy of chromosome 10 short arms.

Authors:  A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

  8 in total

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