chromosomal anomalies

There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies.

They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced translocations) to others being lethal or resulting in a markedly shortened life expectancy (unless mosaicism present).

This (non-exhaustive) list includes:

• 1p36 deletion syndrome
• 11q deletion syndrome - Jacobsen syndrome
• 12p tetrasomy - Pallister-Killian syndrome
• 4p deletion syndrome - Wolf-Hirschhorn syndrome
• 17p deletion syndrome - Miller Dieker syndrome
• 18q deletion syndrome
• Klinefelter syndrome
• triploidy
• trisomy 2 mosaic
• trisomy 3 mosaic
• trisomy 4 mosaic
• trisomy 5 mosaic
• trisomy 6 mosaic
• trisomy 7 mosaic
• trisomy 8 / trisomy 8 mosaic - Warkany syndrome
• trisomy 9 / trisomy 9 mosaic
• trisomy 10 / trisomy 10 mosaic
• trisomy 13 - Patau syndrome
• trisomy 18 - Edward syndrome
• trisomy 21 - Down syndrome
• trisomy 22 / trisomy 22 mosaic
• monosomy X - Turner syndrome

Siehe auch:

• Pätau-Syndrom
• Wolf-Hirschhorn syndrome
• Turner-Syndrom
• Down-Syndrom
• Trisomie 18
• Klinefelter-Syndrom
• Triploidie
• trisomy 9
• Trisomie 22
• Pena-Shokeir-Syndrom
• aneuploidic anomalies
• 17p deletion syndrome
• De-Grouchy-Syndrom Typ 2
• Meckel-Syndrom
• 4p deletion syndrome
• 11q deletion syndrome
• Pallister-Killian-Syndrom

und weiter:

• ventricular septal defect
• Hydrops fetalis
• single umbilical artery
• aneuploidy
• trisomies
• Ösophagusatresie
• Jacobsen syndrome
• cordocentesis
• Oligohydramnion
• Klumpfuß
• amniocentesis
• acardiac twin
• fetal megacystis
• chromosome 4p deletion syndrome
• Miller-Dieker lissencephaly syndrome
• oligohydramnios (mnemonic)
• Brachyzephalie
• TRAP sequence
• fetal nuchal oedema
• two vessel cord
• Nabelschnur-Pseudozyste