GM05750

GM05750 LCL from B-Lymphocyte

Description:

RETINOBLASTOMA, SPORADIC
CHROMOSOME INSERTION

Affected:

No Data

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities
dbGaP

Class

Ophthalmologic Disorders

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

sibling

Confirmation

Clinical summary/Case history

ISCN

46,XX,der(12)ins(12;13)(p11.2;q13q31)mat.ish der(12)(wcp13+).arr 7p15.3(22612295-23040185)x313q13.3q31.1(38481624-83904612)x3

Species

Homo sapiens

Common Name

Human

Remarks

Mental retard; no Retinoblastoma; 46,XX, rec(12),dir ins(12;13)(12pter>12p11.2:: 13q12.3>13q22::12p11.2>12qter)mat; trisomic for 13q12.3>13q22; norm RBC values for LDH, TPI, & PepB; norm electrophoresis patterns for LDH, PepB, TPI, & ESD

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Cytogenetics

Chromosome 13: INSERTION Aneuploid Segment (+)13q12>13q22

Chromosome 13: INSERTION Trisomic Segment 13q12>13q22

Phenotypic Data

Remarks

Publications

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Riccardi VM, Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R, Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin Genet15:332-45 1979

PubMed ID: 436330