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Items: 1 to 20 of 164

1.

Mental retardation and Y/8 translocation [karyotype: 46,XY, t(Y;8)(q12;q24)] in father and son.

Fryns JP, Kleczkowska A, Dereymaeker AM, Van den Berghe H.

Helv Paediatr Acta. 1988 Aug;43(1-2):87-90.

PMID:
3170249
4.

Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat.

Moedjono SJ, Sparkes RS.

Hum Genet. 1979 Sep;50(3):241-6.

PMID:
489007
5.

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

Metaxotou C, Ikkos D, Panagiotopoulou P, Alevizaki M, Mavrou A, Tsenghi C, Matsaniotis N.

Clin Genet. 1983 Nov;24(5):380-3.

PMID:
6652948
6.

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.

Tonoki H, Saitoh S, Kobayashi K.

Am J Med Genet. 1998 Feb 3;75(4):416-8.

PMID:
9482650
7.

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

Sills JA, Buckton KE, Raeburn JA.

J Med Genet. 1976 Dec;13(6):507-10.

8.

A novel Y/13 familial translocation.

Morris MI, Hanson FW, Tennant FR.

Am J Obstet Gynecol. 1987 Oct;157(4 Pt 1):857-8.

PMID:
3674159
9.

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation.

Santos CB, Discepoli G, Pigliapoco F, Boy R, Pimentel MM.

Ann Genet. 2003 Oct-Dec;46(4):471-3.

PMID:
14659784
10.

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G.

Clin Genet. 1988 Jul;34(1):31-7.

PMID:
3165728
11.

Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.

Fryns JP, Kleczkowska A, Van Den Berghe H.

Genet Couns. 1990;1(2):173-7. Review. No abstract available.

PMID:
2081001
12.

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.

Lassota M, Przełozna B, Płodzien M, Bugno M, Wnuk M, Kotylak Z, Słota E.

J Appl Genet. 2005;46(4):419-21.

PMID:
16278518
13.

The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)].

Hills L, Earle E, Wilson M, Petrovic V, Voullaire LE, Leversha M, Danks DM, Choo KH.

Hum Genet. 1991 Jun;87(2):173-6.

PMID:
2066104
14.
15.

Meiotic segregation in familial reciprocal translocation t(8q;22q).

Gödde-Salz E, Oesinghaus S, Grote W.

Am J Med Genet. 1982 Feb;11(2):241-7.

PMID:
7065009
16.

[2 new cases of Y-autosome translocation associated with azoospermia].

Gregori-Romero M, López-Ginés C, Gil R, Galán Sánchez F, Pellín-Pérez A.

Rev Clin Esp. 1990 Jun;187(2):71-3. Spanish.

PMID:
2244061
17.

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.

Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. Epub 2005 Mar 2.

PMID:
16053907
18.

[Familial translocation 22/Y and partial autosomal trisomy in a young girl].

Kessel E, Pfeiffer RA, Welling P.

J Genet Hum. 1979 Mar;27(1):45-51. French.

PMID:
573310
19.

Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

Fryns JP, Parloir C, Van den Berghe H.

Hum Genet. 1979 Jul 18;49(3):361-4.

PMID:
478542
20.

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.

el-Rifai W, Leisti J, Kähkönen M, Pietarinen A, Altherr MR, Knuutila S.

J Med Genet. 1995 Jan;32(1):65-7.

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