8
|
p23.1
|
P
|
PA Dev delay: ADHD, mild dysmorphism
|
Both
|
4
|
129
|
8 | p23.1 | – | PA Short stature | Both | 3 | Family 5108 |
Family 2109 |
9 | p+ | – | PA MCA | Mat | 6 | Family 2130 |
9 | p+ | – | PA Protruding tongue | Mat | 2 | 131 |
9 | q13-q21 (q12/qh) | – | PA Hypoplastic lungs and hydrops | Mat | 2 | 132 |
15 | q11.2v | F | PA Autism | Pat | 2 | Family F120 |
15 | q11.2v | F | PA Dev delay, mod MR | Mat | 2 | Family G120 |
15 | q11.2v | F | PA Autism and mild dysmorphism | Mat | 2 | Family H120 |
15 | q11.2v | F | PA Dev delay, mild dysmorphic features, inguinal hernia, talipes | Both | 5 | Family 1133 |
15 | q11.2v | F | PA Dev delay, gynaecomastia | Mat | 2 | Family 2133 |
15 | q11.2-q13 | M | PA ?FX Dev delay, learning difficulties | Both | 3 | Family 5121 |
15 | q11.2-q13 | M | PA DD Communication difficulties | Both | 3 | Family 6121 |
15 | q11.2-q13 | M | PA ?FX Language disorder, macrocephaly | Pat | 2 | Family 7121 |
15 | q11.2-q13 | M | PA ?FX Communication problems | Pat | 2 | Family 8121 |
15 | q11.2-q13 | M | PA SS; Mild dev delay | Mat | 3 | Family 9121 |
15 | q11.2-q13 | M | PA CHD; VSD, pulmonary stenosis, hypoplastic toes | Mat | 2 | Family 10121 |
15 | q11.2-q13 | M | PA ?Beckwith-Wiedemann | Pat | 2 | Family 11121 |
15 | q11.2-q13 | M | PA IUGR, antimongoloid slant, epicanthic folds ?+21 | Pat | 2 | Family 12121 |
15 | q11.2-q13 | M | PA FTT Sickly child, poor growth | Mat | 2 | Family 13121 |
15 | q12-q13 | – | PA Skeletal abnormalities | Mat | 4 | Patient E134 |
15 | q12-q13 | – | PA Hydrops (non-immune) | Mat | 3 | Patient A134 |
15 | q11.2 | – | PA Hypotonia; ?PWS | Pat | 2 | 135 |
15 | q11.2-q12 | – | PA Obesity | Mat | 2 | 136 |
15 | q11-q13 | – | PA Congenital abnormalities | Pat | 2 | 137 |
15
|
q11.2-q13.3
|
–
|
PA Prader-Willi syndrome in child
|
Pat
|
2
|
138
|
16 | p11.2 | – | PA Dev delay, dysmorphism; MD Myelodysplasia | Both | 8 | Case 3128,139 |
16 | p11.2 | – | PA Macrocephaly and hypospadias | Both | 3 | Case 1140 |
16 | p11.2 | – | PA MCA | Mat | 2 | Case 2140 |
16 | p11.2 | – | PA Cleft palate | Both | 3 | 141 |
16
|
p12+
|
–
|
PA ?Fragile X syndrome
|
Pat
|
2
|
12
|
Total | 30 | 15/30 | PA 29/30; PA + MD 1/30 | 13/30 Mat;
>9/30 pat;
>8/30 both | 84 |
3/30 Abstract only
|