-
Isodicentric 15, also
called marker chromosome 15 syndrome, idic(15),
partial tetrasomy 15q, or
inverted duplication 15 (inv dup 15), is a
chromosome abnormality...
- of cases. Dup15q
syndrome includes both
interstitial duplications and
isodicentric duplications (i.e., Idic15) of 15q11.2-13.1.
Important genes likely involved...
- is
generally not hereditary. A
specific chromosomal change called an
isodicentric chromosome 15 (IDIC15) (also
known by a
number of
other names) can affect...
- infancy. They have
characteristic clenched hands and
overlapping fingers.
Isodicentric 15, also
called idic(15),
partial tetrasomy 15q, or
inverted duplication...
- syndrome) h
Heterochromatic region of
chromosome i
Isochromosome idic
Isodicentric chromosome (duplication &
inversion of centromere-containing segment)...
-
resulting chromosome may
appear monocentric with only one centromere, it is
isodicentric with two
centromeres very
close to each other;
resulting in a potential...
-
Intellectual disability Intracranial cyst
Intracranial hypertension Isodicentric 15
Joubert syndrome Karak syndrome Kearns–Sayre
syndrome Kinsbourne syndrome...
-
microcephaly MED17
recessive Ischiopatellar dysplasia TBX4
dominant Isodicentric 15 15q11–14 Inv dup 1:30,000 PRICKLE1-related
progressive myoclonus epilepsy...
-
variations that
cause the 45,X/46,XY karyotype,
including malformation (
isodicentricism) of the Y chromosomes,
deletions of Y
chromosome or translocations...
-
testing (since
clinical recognition is difficult).
Chromosomal (e.g.:
isodicentric 15q) ASD-risk
genes (e.g.: ADNP, ARIDB1B, ANK2, SCN2A) ASD-****ociated...
