Gene Transcript

Location

Variant

Zygosity

Disease (OMIM)

Inheritance

Classification

Case 3

SYP

Chr X

c.429delT

Hemizygous

X Linked Mental retardation Type 96

Autosomal recessive

Pathogenic

Mother of Case 3

SYP

Chr X

c.429delT

Heterozygous

X Linked Mental retardation Type 96

Autosomal recessive

Unaffected (Heterozygous)

Chorionic Villus Sampling of subsequent conceptus

SYP

Chr X

c.429delT

Hemizygous

X Linked Mental retardation Type 96

Autosomal recessive

Pathogenic