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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- Bick D, Curry C J R, McGill J R, Schorderet D F, Bux R C, Moore C M: Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. AJMG 33:100-107, 1989. [PubMed: 2750777]
Bick D P, Schorderet D F, Price P A, Campbell L, Huff R W, Shapiro L J, Moore C M: Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Prenat. Diag. 12:19-29, 1992. [PubMed: 1557308]46,der del(X)(qter -> p22.31:)mat Y.Prior to termination at 19 weeks, nasal hypoplasia was identified by ultrasound examination.Patient died at 8 months of age.Aberration: Terminal deletionMIM#: 308100,308700,302950Chromosomal Aneuploidy: Xp-Index Terms: Nasal hypoplasiaNegative band - Bukvic N, Delli Carri V, Di Cosola M L, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Morgaglione M.: Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. AJMG Part A: DOI=10.1002/ajmg.a.33437; 152A: 1730-1734, 2010. [PubMed: 20578256]Patient 1=46,Y,der(X)t(X;Y)(p22;q12).ish.der(X)(Xpter-,DXZ1+,Xqter+)mat.arr cghXp22.31p22.33(RP11-60P14->RP13-391G2)x0;arr cghYq11.221qter(RP11-235l1->RP11-270H4)x2.,Patient 2=46,X,der(X)t(X;Y)(p22;q12).ish.der(X)(Xpter-,DXZ1+,Xqter+)mat.aa cgh Xp22.31p22.33(RP11-60P14->RP13-391G2)x1;arr cgh Yq11.221qter(RP11-235l1->RP11-270H4)x1.The family was evaluated because of neuropsychiatric clinic''s referral of the boy at the age 3 years.The mother had the same karyotype as that of her daughter ie patient 2.Aberration: Simple translocationChromosomal Aneuploidy: Xp-
- de Vries B B A, Eussen B H J, van Diggelen O P, van der Heide A, Deelen W H, Govaerts L C P, Lindhout D, Wouters C H, Van Hemel J O.: Submicroscopic Xpter deletion in a boy with growth and mental retardation vaused by a familial t(X;14). AJMG 87:189-194, 1999. [PubMed: 10533035]
Veltman J A, Yntema H G, Lugtenberg D, Arts H, Briault S, Huys E H L P G, Osoegawa K, de Jong P, Brunner H G, Geurts van Kessel A, van Bokhoven H, Schoenmakers E F P M.: High resolution profiling of X chromosomeal aberrations by array comparative genomic hybridisation. J. Med. Genet. 41:425-432, 2004. [PMC free article: PMC1735810] [PubMed: 15173227]Aberration: Reciprocal translocationChromosomal Aneuploidy: Xp- - Matsumoto T, Taku K, Miike T, Harada N, Niikawa N: XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation. Clin. Genet. 39:156-158, 1991. [PubMed: 2015697]46,X,der(X),t(X;Y)(p22.31;q11.21).,46,-X,+der(X),t(X;Y)(p22.31;q11.21)mat,Y.Aberration: Simple translocationMIM#: 308100,307300Negative band
- Schorderet D F, Friedman C, Disteche C M: Pericentric inversion of the X chromosome: presentation of a case and review of the literature. Ann. Genet. 34:98-103, 1991. [PubMed: 1746892]46,Y,der inv(X)(p22.31q26.3)mat.,46,X,der inv(X)(p22.31q26.3)mat and pat.This case was ascertained through amniocentesis for advanced maternal age. The carrier individuals were all phenotypically normal.Aberration: Inversion pericentricNegative band
- Thomas N S, Sharp A J, Browne C E, Skuse D, Hardie C, Dennis N R.: Xp deletions associated with autism in three females. Hum. Genet. 104:43-48, 1999. [PubMed: 10071191]Case 2, patient ID 83-04399:46,X,t(X;Y)(p22.31;q11.21)de novo.Case was ascertained because of short stature.The deleted X was paternal in origin.Case no. 7, patient ID 95-02669:46,X,del(X)(p22.31)de novoTurner syndrome was diagnosed.The deleted X was paternal in origin.Aberration: ST,TDChromosomal Aneuploidy: Xp-
- Tobias E S, Bryce G, Farmer G, Barton J, Colgan J, Morrison N, Cooke A, Tolmie J L.: Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. J. Med. Genet. 38:466-469, 2001. [PMC free article: PMC1757174] [PubMed: 11474655]46,Y,der(X)t(X;Y)(p22.31;q11.21)mat.The patient was 9 years old with shortening of the middle finger (left hand) and facial dysmorphism similar to Binder syndrome.Aberration: Simple translocationMIM#: 155050Chromosomal Aneuploidy: Xp-Index Terms: MRX49 locus
- Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]Case 3=46,X,t(X;20)(p22.31;q13.3).Aberration: Simple translocationNo band
- Wulfsberg E A, Curtis J, Jayne C H: Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. AJMG 43:823-828, 1992. [PubMed: 1642270]46,-X,+der(X)t(X;Y)(p22.31;q11.21)mat,Y.,"46,X,-X,+der(X)t(X;Y)(p22.31;q11.21)."Aberration: Simple translocationMIM#: 302950,308700Negative band
- 0Xp2231 - Chromosomal Variation in Man0Xp2231 - Chromosomal Variation in Man
- G-protein coupled receptor 143 [Homo sapiens]G-protein coupled receptor 143 [Homo sapiens]gi|270265839|ref|NP_000264.2|Protein
- PHF23 PHD finger protein 23 [Homo sapiens]PHF23 PHD finger protein 23 [Homo sapiens]Gene ID:79142Gene
- Gene Links for Nucleotide (Select 2217313761) (1)Gene
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