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Case Scenarios

Case Scenarios. Philippa Preece – Genetic Counsellor New Molecular Scientist Study day Tuesday 4 th November 2008. 4 year old boy referred by paediatrician Developmental delay Recurrent fevers Poor behaviour Poor eating habits Poor concentration Builds three bricks

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Case Scenarios

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  1. Case Scenarios Philippa Preece – Genetic Counsellor New Molecular Scientist Study day Tuesday 4th November 2008

  2. 4 year old boy referred by paediatrician • Developmental delay • Recurrent fevers • Poor behaviour • Poor eating habits • Poor concentration • Builds three bricks • Using three word sentences, simple words difficult to comprehend • Violent towards mother • Swears • Can use spoon but mother has to feed

  3. Full blood count • U & Es • Lactate • TFTs • Immunoglobulins • Chromosomes • Fragile X

  4. Initial karyotype: 47,XY,add(5)(q22),+der(?)t(?;5)(?;q22) Dads karyotype: 46,XY Mums karyotype: 46,XX,t(1;5;22)(q44;q22;q11.21) Boy inherited derived chromosome 5 & 22 from mothers 3 way translocation Karyotype : 47,XY,der(5)t(1;5;22)(q44;q22;q11.21)mat,+der(22)t(1;5;22)mat Many unbalanced outcomes from mild as in current child or severe live born risk cannot be calculated

  5. Pakistani couple

  6. Both parents Beta thalassaemia major carriers • Mother carries balanced translocation between chromosome 2 & 5 • Baby unaffected Beta thalassaemia, balanced carrier of translocation • a further what appeared balanced translocation between 19 & 6 • Father normal karyotype

  7. Referral 2007 32 year old lady BPES Blepharomosis Abnormality involving development of the eyelids, ptosis, premature ovarian failure Inherritance dominant

  8. Two abandoned attempts at IVF stimulation funded in UK Went abroad for egg donation – two failed attempts further attempt soon already paid for Attended ACU – karyotypes done Affected lady normal female karyotype 46,XX Partner found to have balanced translocation between chromosomes 1 & 7 46,XY,t(1;7)(p32;p21.2) Never had any embryos suitable for cryopreservation

  9. Two more cases with issues • Maternal contamination • Lady in early 30s, two children with CF diagnosed at 10 and 8 • Overwhelming MCC second CVS required • Normal female • Disclosure • Lady had CVS 13 years ago following identification of balanced • translocation in partner. X4 miscarriages • CVS identified balanced translocation in baby • Already have a child who is 18yrs. • Telephone request for advice re telling the younger girl and • advising the older regarding carrier testing.

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