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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Adam M P, Mehta A, Knight L, Hall D E, Rossi M R.: A family with a 1.17 Mb deletion of 12q12: refinning genotype-phenotype correlation. AJMG Part A: 152A: 2394-2398, 2010. [PubMed: 20683996]The deletion includes 5 genes: YAF2, GLT8D3, PRICKLE1, PPHLN1, and ZCRB1.,46,XY,der del(12)(q12)patBoth individuals have dysmorphic features and educational issues.,Proband was ascertained in infancy due to MCA/MR.Aberration: Interstitial deletionChromosomal Aneuploidy: 12q-No band
- Fryns J P, van den Berghe H: Paracentric inversion in man: personal experience and review of literature. Hum. Genet. 54:413-416, 1980. [PubMed: 7399530]Family(S).mos normal/inv(12)(q12q24).Aberration: Inversion paracentricPositive band
- Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]Patient 4mos46,XX/46,XX,inv(12)(q12q24).Aberration: Inversion paracentricPositive band
- Krishna Murthy D S, Redha M A, Gouda S A, Bastaki L, Al-Awadi S A.: Paracentric inversion of chromosome 12 [46,XX,inv(12)(q12;q24) in a woman with recurrent fetal anomalies. AJHG 67 (Suppl. 2):147, 2000.46,XX,inv(12)(q12q24).Aberration: Inversion paracentricNo band
- Mann J, Wcislo K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1769.46,XY,inv(12)(q12q15)mat.Aberration: Inversion paracentricPositive band
- Rethore M O, Kaplan J C, Junien C, Cruveiller J, Dutrillaux B, Aurias A, Carpentier S, Lafourcade J, Lejeune J: "Increase of LDH-B activity in a boy with trisomy 12p due to malsegregation of a maternal translocation t(12;14)(q12;p11)." Ann. Genet. 18:81-87, 1975. [PubMed: 1081369]46,XX,t(12;14)(12pter->12q12::14p11->14pter;14qter->14p11::12q12->12qter).,47,XY,+der(12)t(12;14)(q12;p11)mat.Case III-5 (131173) in this report.The partial trisomy of 12p region was found in one child in this family.Aberration: Reciprocal translocationPositive band
- Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]46,XX,t(12;13)(q12;q34).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band
- Tonoki H, Saitoh S, Kobayashi K.: Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. AJMG 75:416-418, 1998. [PubMed: 9482650]46,XY,del(12)(q12q13.12)de novoThe 2 year old had a funnel chest, wide-set nipples, MCA with severe psychomotor retardation.Aberration: Interstitial deletionMIM#: 163950Chromosomal Aneuploidy: 12q-Index Terms: Noonan syndromeNo band
- Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]46,XY,inv(12)(q12q21)pat.Aberration: Inversion paracentricPositive band
- 12q120 - Chromosomal Variation in Man12q120 - Chromosomal Variation in Man
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