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Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature

Fryns, J.P.; Kleczkowska, A.; Van den Berghe, H.

Annales de Genetique 33(1): 43-45

1990

ISSN/ISBN: 0003-3995
PMID: 2195980
Document Number: 349100
In this report we describe a female neonate with 12p interstitial deletion (karyotype:46,XX,del(12)(pter.fwdarw.p13.1::p11.2.fwdarw.cen.fwdarw.qter)). In addition to severe psychomotor retardation, facial dysmorphism and Turner like stigmata, she presented marked hypothesia of the external genitalia and right heart hypoplasia. Study of LDH activity showed a marked decrease of LDHB activity contrasting with an elevated LDHA.

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Kaneko, Y.; Egues, M.C.; Rowley, J.D. 1981: Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia Cancer Research 41(11 Part 1): 4577-4578
Van de Graaf, G.; Sijstermans, J.M.; Engelen, J.J.; Schrander-Stumpel, C.T. 1997: Mild phenotype in interstitial 4p deletion: another patient and review of the literature Genetic Counseling 8(1): 13-18
Dallapiccola, B.; Marino, B.; Giannotti, A.; Valorani, G. 1989: Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature Annales de Genetique 32(2): 92-96
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Taillemite, J.L.; Morlier, B.G.; Roux, C. 1975: Interstitial deletion of the long arm of one 11 chromosome Annales de Genetique 18(1): 61-63
Kodama, M.; Kai, Y.; Sugino, S.; Inokuchi, N.; Miike, T. 1990: Two siblings with interstitial deletion of chromosome 14 [46 XX, del (14) (q12 q13.3) No to Hattatsu 22(1): 61-65
Martsolf, J.T.; Ray, M. 1983: Interstitial deletion of the long arm of chromosome 3 Annales de Genetique 26(2): 98-99
Cote, G.B.; Papadakou-Lagoyanni, S.; Metaxotou, C. 1981: A de novo interstitial deletion of band q21 on chromosome 6 Annales de Genetique 24(3): 170-171
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Fryns, J.P.; Vandenberghe, K.; Van den Berghe, H. 1991: Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6 Annales de Genetique 34(2): 127
Serville, F.; Allain, D.; Broustet, A.; Martin, C.; Gachet, M.; Babin, J.P.; Cenraud, J. 1976: Partial deletion of the short arm of the chromosome 9 Annales de Genetique 19(2): 143
D'Oelsnitz, M.; Ayraud, N.; de Swarte, M.; Vaillant, J.M.; Darcourt, G. 1970: A case of deletion of short arm of chromosome 18 Pediatrie 25(2): 213-214
Kobielowa, Z.; Mazurek, A.; Kownacka-Klimek, E.; Kubień, E. 1973: Male pseudohermaphroditism with deletion of short and long arm of chromosome Y Pediatria Polska 48(5): 613-616
Vaillaud, J.C.; Martin, J.; Ayraud, N. 1970: A recent case of partial deletion of short arm of chromosome 18 Annales de Genetique 13(2): 120-122
Malpuech, G.; Raynaud, E.J.; Gaulme, J.; Godeneche, P. 1971: Complete deletion of the short arm of chromosome 18 and G-18 translocation with dyschromy and hypothyroidism Archives Francaises de Pediatrie 28(8): 837-846
Gilgenkrantz, S.; Charles, J.M.; Cabrol, C.; Mauuary, G.; Vigneron, C. 1972: Deletion of the short arm of chromosome 18 due to t(22-;18p+) translocation with IgA deficiency. Cytogenetic study with autoradiography and fluorescence Annales de Genetique 15(4): 275-281
Simon, N.; Hunyadi, J.; Szörényi, A.; Szemere, G. 1973: Deletion of the short arm of chromosome 18 and trisomy 18 in a pair of siblings with unusual form of porphyria Der Hautarzt; Zeitschrift für Dermatologie Venerologie und verwandte Gebiete 24(5): 185-189