Literature DB >> 3198122

Interstitial deletion of chromosome 15: two cases.

L D Formiga1, L Poenaru, F Couronne, E Flori, J L Eibel, M M Deminatti, J B Savary, J L Lai, S Gilgenkrantz, M Pierson.   

Abstract

Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion.

Mesh：

Year:  1988        PMID： 3198122     DOI： 10.1007/bf00273663

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.

Authors:  V van Heyningen; M Bobrow; W F Bodmer; S E Gardiner; S Povey; D A Hopkinson
Journal:  Ann Hum Genet       Date:  1975-01       Impact factor: 1.670

2.  Assignment of the human genes for mannose phosphate isomerase, pyruvate kinase (M2), and hexosaminidase-A to chromosome 15.

Authors:  R S Kucherlapati; F H Ruddle
Journal:  Cytogenet Cell Genet       Date:  1976

3.  Ring chromosome 15 syndrome. Further delineation of the adult phenotype.

Authors:  J P Fryns; A Kleczkowska; M Buttiens; P Jonckheere; K Brouckmans-Buttiens; H van den Berghe
Journal:  Ann Genet       Date:  1986

4.  Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15.

Authors:  C J Chern; R Kennett; E Engel; W J Mellman; C M Croce
Journal:  Somatic Cell Genet       Date:  1977-11

5.  Del(15)(q22q24) syndrome with Potter sequence.

Authors:  R D Clark
Journal:  Am J Med Genet       Date:  1984-12

6.  Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta 2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier.

Authors:  N Oliver; U Francke; M A Pellegrino
Journal:  Cytogenet Cell Genet       Date:  1978

7.  Interstitial deletion of the long arm of chromosome 15.

Authors:  J P Fryns; A de Muelenaere; H van den Berghe
Journal:  Ann Genet       Date:  1982

8.  Cytogenetic studies of familial Prader-Willi syndrome.

Authors:  T Hasegawa; M Hara; M Ando; M Osawa; Y Fukuyama; M Takahashi; K Yamada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Localization of MPI, PKM2, IDHM, and the alpha subunit of hexosaminidase (HEXA) to the q21 leads to qter region of human chromosome 15.

Authors:  B Hellkuhl; W R Mayr; K H Grzeschik
Journal:  Cytogenet Cell Genet       Date:  1978

10.  Duplication of distal 15q: report of five new cases from two different translocation kindreds.

Authors:  R V Lacro; K L Jones; J T Mascarello; O W Jones; N Wilson; M C Jones
Journal:  Am J Med Genet       Date:  1987-03
  10 in total
  9 in total

1.  A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.

Authors:  F Martin; J Platt; E J Tawn; J Burn
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

2.  An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

Authors:  E W Roback; A J Barakat; V G Dev; M Mbikay; M Chrétien; M G Butler
Journal:  Am J Med Genet       Date:  1991-01

3.  Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

Authors:  Shashikant Kulkarni; Prabakaran Nagarajan; Jonathan Wall; Diana J Donovan; Robert L Donell; Azra H Ligon; Sundaresan Venkatachalam; Bradley J Quade
Journal:  Am J Med Genet A       Date:  2008-05-01       Impact factor: 2.802

4.  Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Authors:  Joris Andrieux; Christèle Dubourg; Marlène Rio; Tania Attie-Bitach; Elsa Delaby; Michèle Mathieu; Hubert Journel; Henri Copin; Eléonore Blondeel; Martine Doco-Fenzy; Emilie Landais; Bruno Delobel; Sylvie Odent; Sylvie Manouvrier-Hanu; Muriel Holder-Espinasse
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

5.  Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Authors:  Ayman W El-Hattab; Teresa A Smolarek; Martha E Walker; Elizabeth K Schorry; LaDonna L Immken; Gayle Patel; Mary-Alice Abbott; Brendan C Lanpher; Zhishuo Ou; Sung-Hae L Kang; Ankita Patel; Fernando Scaglia; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Genet       Date:  2009-06-26       Impact factor: 4.132

Review 6.  Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.

Authors:  Yaobin Liu; Beth Mapow
Journal:  Mol Genet Genomic Med       Date:  2020-05-13       Impact factor: 2.183

7.  A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Authors:  Eva Klopocki; Luitgard M Graul-Neumann; Ulrike Grieben; Holger Tönnies; Hans-Hilger Ropers; Denise Horn; Stefan Mundlos; Reinhard Ullmann
Journal:  Eur J Pediatr       Date:  2007-10-12       Impact factor: 3.183

8.  Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Authors:  Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
Journal:  BMC Med Genet       Date:  2006-02-10       Impact factor: 2.103

9.  De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.

Authors:  Ha-Su Kim; Jin-Yeong Han; Myo-Jing Kim
Journal:  Korean J Pediatr       Date:  2015-08-21
  9 in total

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