NA11165

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY in PBL; at age 8, weighs 35 lbs and has a borderline head circumference; hirsute; low post hairline; confluent eyebrows; long lashes; broad nasal bridge; prominent philtrum; high arched palate; micrognathia; clinodactyly of 5th fingers; web toes

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

External Links

dbSNP

dbSNP ID: 11487

NCBI GTR

122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

OMIM

122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

Omim Description

BRACHMANN-DE LANGE SYNDROME; BDLS

CORNELIA DE LANGE SYNDROME 1; CDL1

CORNELIA DE LANGE SYNDROME; CDL

TYPUS DEGENERATIVUS AMSTELODAMENSIS

Description:

CORNELIA DE LANGE SYNDROME 1; CDLS1

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links