Wikibooks: Handbook of Genetic Counseling/Cleft Lip and Palate

• Format: Book
• Language: English
• Subjects: Long Arm; Iceland
• Online Access: https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Cleft_Lip_and_Palate

Cleft Lip and Palate =Introduction and Contracting= =Review Medical History= (fill out remainder of intake and verify info) =Family History= (verify pedigree if we have one in his mother s chart or make a new one) Be sure to include cleft lip and palate heart defects birth defects learning difficulties intellectual disability miscarriages early deaths consanguinity =Inheritance and Recurrence Risk= If neither parent has a cleft than the inheritance is probably either multifactorial or recessive and these are not distinguishable usually multifactorial combination of genes and environment approximately 3 5% chance of having another similarly affected child this is 20 35 fold increase over baseline (this risk increases more if the couple have more than one affected child) =Multifactorial Risks of Cleft Lip/Palate= recurrence also influenced by how severe the cleft is 5.6% for bilateral lip/palate 4.1% for unilateral lip/palate and 2.6% for cleft lip without cleft palate if it can be established that there are no other affected relatives the risk to siblings (2.2%) is less than the overall risk (4%). The higher figure should be used if the history is unreliable or unavailable. If there is a third first degree relative than autosomal dominant or recessive inheritance should be considered. recessive inheritance both parents contribute the same recessive gene to affected child recurrence risk 25% or 1 4 gene not mapped Autosomal dominant THIS IS WHAT WAS COUNSELED FOR THIS FAMILY usually one parent will also have cleft risk of recurrence is 50% or 1 2 gene mapped to short arm chromosome 6 X linked recessive pattern seen sometimes with clefting of the secondary palate or bifid uvula x linked recurrence risks in one of these families from Iceland the single gene has been mapped to the long arm of chromosome X Association with a syndrome or collection of physical findings which run together in the same person and for the most part are seen in all individuals who have that syndrome Syndromes are more common in cleft palate ...