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Balanced Translocations
Karuna Sapru
Arshad Siddiqui
Janet Smillie
Alison Teo
The case of Mr and Mrs Snow and
their Christ...
Dear Dr Claus,
I would be very grateful if you could see Mr and Mrs Snow in your clinic
who have been trying for a baby fo...
History
• Personal
• Family History
– Affected and at risk relatives
– Automimmune disease
Why does miscarriage happen?
– ...
Pedigree
?
Genes are found
in paired
chromsomes
Each parent has 23
chromosome pairs and a
pair of sex chromosomes
Each parent passes ...
Normal DeletionBalanced Deletion
Mrs Snow Mr Snow
Balanced
• Same as Mr Snow
• Risk Multiple Myeloma
Deletion of
chromosome 4p
Wolf-Hirschhorn Syndrome
Mental retardation
Cleft lip/palate - feeding difficulties
Microcephaly...
Deletion of
chromosome 14q
•Few described cases
•Overlapping toes
•Pointed chin
•Congenital heart anomaly
•Excess neck ski...
Options
• Genetic Ix
• Preimplantation genetic Dx
• CVS
• amniocentesis
Different Situations
• Spontaneous
mutation or
inherited?
• If unbalanced
translocation
• Sister
– Test for translocation
Merry Christmas
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Balanced Translocation

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Balanced Translocation

  1. 1. Balanced Translocations Karuna Sapru Arshad Siddiqui Janet Smillie Alison Teo The case of Mr and Mrs Snow and their Christmas Baby Wish
  2. 2. Dear Dr Claus, I would be very grateful if you could see Mr and Mrs Snow in your clinic who have been trying for a baby for some time now. Unfortunately, Mrs Snow has suffered three first trimester miscarriages and the couple are finding it hard to come to terms with this. There is a positive family history on the paternal side with Mr Snow’s mother suffering from two miscarriages. His sister is also in very early pregnancy and may also therefore benefit from cytochromal genetic analysis and a referral to your clinic. I have arranged for lupus anticoagulant and anticardiolipin antibody studies and a cytogenetic chromosomal analysis for each partner and the results should now be available to you. On further discussing the situation with the couple I have mentioned the possibility of a genetic cause for their recurrent miscarriages with this being the reason for their referral to your clinic for further information. I hope you are able to help this couple. Yours sincerely, Dr. S. Leigh
  3. 3. History • Personal • Family History – Affected and at risk relatives – Automimmune disease Why does miscarriage happen? – Uterine abnormalities – Immunologic reasons – Medical (thyroid, DM) – PCOS – Infection – Lifestyle – Genetics • Commonest – trisomy 16
  4. 4. Pedigree ?
  5. 5. Genes are found in paired chromsomes Each parent has 23 chromosome pairs and a pair of sex chromosomes Each parent passes on one chromosome from each pair to their offspring
  6. 6. Normal DeletionBalanced Deletion Mrs Snow Mr Snow
  7. 7. Balanced • Same as Mr Snow • Risk Multiple Myeloma
  8. 8. Deletion of chromosome 4p Wolf-Hirschhorn Syndrome Mental retardation Cleft lip/palate - feeding difficulties Microcephaly and seizures Poor muscle tone Characteristic facies -hypertelorism -down turned mouth -small chin WHSC1 geneWHSC1 gene
  9. 9. Deletion of chromosome 14q •Few described cases •Overlapping toes •Pointed chin •Congenital heart anomaly •Excess neck skin •High vaulted palate •Narrow palate •Small jaw •Developmental delay •Seizures
  10. 10. Options • Genetic Ix • Preimplantation genetic Dx • CVS • amniocentesis
  11. 11. Different Situations • Spontaneous mutation or inherited? • If unbalanced translocation • Sister – Test for translocation
  12. 12. Merry Christmas

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