Ring 20 Chromosome Disorder. circulation deletes or alters activity of genes
Inversion- . AB-EDC-FG. inversion 8. SOuth western Hispanics. Recombinant 8 syndrome.
elastin (ELN) gene.
common are 1Xq and 118q, 1 arm is missing and other id duplicated.
duplication in ch.17 most common inherited disorder of PNS. peripheral limb weakness, high foot arch, hammer toes. Charcot-Marie-Tooth
Size deletion is proportional to mental impairment. common in females. Cri du Chat syndrome
2 acrocentric nonhomologous ch. fuse near centromere with loss of short arm. not deletrious ..
deletion of short arm ch. 4, WHSC1 code for histone methyltransferase, Greek warrior helmet, WOLF-HIRSCHHORN SYNDROME
Interchange of genetic material between non-homologus chromosomes. . Ch.9 to 22.
LETM1 codes for mitochondrial Ca2+/H+ antiporter, MSX makes a transcriptional repressor.
rare; around 60 cases, recurrent seizures (day or night); resistant to drugs -
single chromsome undergoes 2 breaks and is segmented btwn inverted or opposite. Hemophilia A, normal carriers, offspring can be effect.
Reciprocal Translocation. BCR/ABL1. Cancer of White blood cells; Chronic Myelogeneous Leukemia.
chromsome divides perpendicular.. Isochromsome.
defective PMP22; which interact with gap junction connexins, closes connexon and demyelination.
(DELETION OF short arm ch. 5,)
aortic stenosis, dental malformatioin, elf like, Williams Syndrome
not deletrious, rRNA genes, involve ch 21q and 14q and can produce offspring. Robertsonian Translocation
