163 related articles for article (PubMed ID: 15666312)
1. Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.
Amor DJ; Voullaire L; Bentley K; Savarirayan R; Choo KH
Am J Med Genet A; 2005 Mar; 133A(2):151-7. PubMed ID: 15666312
[TBL] [Abstract][Full Text] [Related]
2. Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
Hou JW
Chang Gung Med J; 2004 May; 27(5):373-8. PubMed ID: 15366814
[TBL] [Abstract][Full Text] [Related]
3. Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.
Halushka MK; Stetten G; McMichael JL; Blakemore KJ; Hutchins GM
Am J Med Genet A; 2005 Jun; 135(2):181-5. PubMed ID: 15832358
[TBL] [Abstract][Full Text] [Related]
4. Supernumerary ring chromosome 20 in a mother and her child.
Pinto MR; Fonseca e Silva ML; Aguiar J; Quelhas I; Lima MR
Am J Med Genet A; 2005 Mar; 133A(2):193-6. PubMed ID: 15666311
[TBL] [Abstract][Full Text] [Related]
5. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
Haddad V; Aboura A; Tosca L; Guediche N; Mas AE; L'Herminé AC; Druart L; Picone O; Brisset S; Tachdjian G
Am J Med Genet A; 2012 Apr; 158A(4):894-900. PubMed ID: 22419357
[TBL] [Abstract][Full Text] [Related]
6. Interstitial deletion of 13q22-->q31: case report and review of the literature.
Morales JA; Mendizabal AP; Vásquez AI; Figuera LE; González-García JR
Clin Dysmorphol; 2006 Jul; 15(3):139-143. PubMed ID: 16760731
[TBL] [Abstract][Full Text] [Related]
7. [Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion].
Wang H; Huang C; Li L; Liu Y; Wang T; Zhang Y; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1213-1218. PubMed ID: 31813151
[TBL] [Abstract][Full Text] [Related]
8. Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.
Kulikowski LD; Christ LA; Nogueira SI; Brunoni D; Schwartz S; Melaragno MI
Am J Med Genet A; 2006 Jan; 140(1):82-7. PubMed ID: 16333825
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 -->13q22 chromosome and balancing reciprocal deletion.
Knegt AC; Li S; Engelen JJ; Bijlsma EK; Warburton PE
Prenat Diagn; 2003 Mar; 23(3):215-20. PubMed ID: 12627422
[TBL] [Abstract][Full Text] [Related]
10. Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
Louvrier C; Egea G; Labalme A; Des Portes V; Gazzo S; Callet-Bauchu E; Till M; Sanlaville D; Edery P; Schluth-Bolard C
Cytogenet Genome Res; 2015; 147(2-3):111-7. PubMed ID: 26669311
[TBL] [Abstract][Full Text] [Related]
11. Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
Guilherme RS; Bragagnolo S; Pellegrino R; Christofolini DM; Takeno SS; Carvolheira GM; Kulikowski LD; Melaragno MI
Cytogenet Genome Res; 2011; 134(4):325-30. PubMed ID: 21849783
[TBL] [Abstract][Full Text] [Related]
12. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.
Yeung A; Francis D; Giouzeppos O; Amor DJ
Am J Med Genet A; 2009 Mar; 149A(3):505-9. PubMed ID: 19215037
[TBL] [Abstract][Full Text] [Related]
13. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.
Chen H; Tuck-Muller CM; Batista DA; Wertelecki W
Am J Med Genet; 1995 Mar; 56(2):219-33. PubMed ID: 7625449
[TBL] [Abstract][Full Text] [Related]
14. Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
Warburton PE; Dolled M; Mahmood R; Alonso A; Li S; Naritomi K; Tohma T; Nagai T; Hasegawa T; Ohashi H; Govaerts LC; Eussen BH; Van Hemel JO; Lozzio C; Schwartz S; Dowhanick-Morrissette JJ; Spinner NB; Rivera H; Crolla JA; Yu C; Warburton D
Am J Hum Genet; 2000 Jun; 66(6):1794-806. PubMed ID: 10777715
[TBL] [Abstract][Full Text] [Related]
15. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
Chuang L; Wakui K; Sue WC; Su MH; Shaffer LG; Kuo PL
Am J Med Genet A; 2005 Mar; 133A(2):180-3. PubMed ID: 15666301
[TBL] [Abstract][Full Text] [Related]
16. Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.
Cantú ES; Thomas IT; Frias JL
Clin Genet; 1989 Sep; 36(3):189-95. PubMed ID: 2676269
[TBL] [Abstract][Full Text] [Related]
17. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Ballarati L; Rossi E; Bonati MT; Gimelli S; Maraschio P; Finelli P; Giglio S; Lapi E; Bedeschi MF; Guerneri S; Arrigo G; Patricelli MG; Mattina T; Guzzardi O; Pecile V; Police A; Scarano G; Larizza L; Zuffardi O; Giardino D
J Med Genet; 2007 Jan; 44(1):e60. PubMed ID: 17209130
[TBL] [Abstract][Full Text] [Related]
18. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
Lorentz CP; Jalal SM; Thompson DM; Babovic-Vuksanovic D
Am J Med Genet; 2002 Jul; 111(1):61-7. PubMed ID: 12124737
[TBL] [Abstract][Full Text] [Related]
19. Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.
Li S; Malafiej P; Levy B; Mahmood R; Field M; Hughes T; Lockhart LH; Wu Z; Huang M; Hirschhorn K; Velagaleti GV; Daniel A; Warburton PE
Am J Med Genet; 2002 Jul; 110(3):258-67. PubMed ID: 12116235
[TBL] [Abstract][Full Text] [Related]
20. Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13.
Mehra S; Christ L; Jeng L; Zinn AB; Schwartz S
Am J Med Genet A; 2005 Aug; 137(2):217-21. PubMed ID: 16059944
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]