del | | | | | | | |
1 | q42.1-q42.3 | 7.1 | P | PA Dev delay, ADD | Mat | 2 | 45 |
2 | p11.2-p12 | 7.5 | F,M | PA Wilm,s tumour, dev delay | Mat | 2 | Family 31 |
3 | p25-pter | 9.1 | – | PA Speech delay | Mat | 2 | 46 |
4 | p15.2-p16.1 | 15.9 | – | PA | Mat | 2 | 47 |
4 |
q33-qter
|
18.6
|
F
|
PA MCA inc macrocephaly and language delay
|
Mat
|
2
|
48
|
4
| q33-q35.1 | 13.3 | – | PA Dev delay | Mat | 3 | 49 |
4 |
q33-q33
|
2.7
|
–
|
PA Dev delay and dysmorphic features
|
Mat
|
2
|
Family 1
50
|
4 |
q32-q33
|
8.0
|
–
|
PA Dev delay and dysmorphic features
|
Mat
|
2
|
Family 2
50
|
5
| p15.32-pter | 9.5 | – | PA Dev motor, speech delay | Mat | 4 | 51 |
5 |
p15.31-pter
|
9.5
|
F
|
PA Speech delay, dysmorphic
|
Pat
|
4
|
52
|
5
| p15.3-pter | 8.2 | F | PA Cat cry at birth, low birth weight | Pat | 4 | 53 |
5
| p15.3-pter | 9.5 | M | PA Speech delay, hearing loss, mild MR | Both | 3 | Family I54 |
5
| p15.3-pter | 9.5 | M | PA Speech delay, mild dev delay | Mat | 2 | Family II54 |
5
| p15.3-pter | 8.7 | M | PA Speech delay, raspy voice | Mat | 3 | Family III54 |
5
| p15.3-pter | 8.7 | M | PA Speech and dev delay | Both | 6 | Family IV54 |
5
| p15.1-pter | 13.6 | – | PA MCA | Mat | 2 | 55 |
5
| p14-p15.3 | 20.4 | – | PA Cri-du-chat | Mat | 2 | 56 |
5
| p13.3-p14.3 | 13.6 | | PA Microcephaly, small | Mat | 4 | 57 |
5
| p13.1-p14.2 | 8.2 | M | PA Speech delay | Both | 6 | 21 |
5
| p13-p15.1 | 17.0 | – | PD Maternal age | Mat | 4 | 58 |
8
| p23.1-pter | 6.2 | F | PA Mental slowness, behaviour, seizures | Pat | 3 | 59 |
9 |
q31.2-q32
|
3.2
|
–
|
PA Dev dela, FTT, unusual appearance
|
Matm
|
2
|
60
|
11
| q24.2-qter | 9.6 | – | PA Dev delay | Mat | 2 | 61 |
13
| q14.1-q21.3 | 19.9 | B | PA Leukocoria | Mat | 2 | 62 |
14
| q31-q31 | 8.2 | M | PA Dev delay | Both | 4 | 63 |
15
| q11-q12 | 2.0 | M | PA MR | Mat | 2 | 64 |
18
| p11.3-pter | 5.7 | F, P | PD Previous son with MR | Mat | 2 | 65 |
18 |
p11.21-pter
|
12.9
|
–
|
PA MR; short stature
|
Mat
|
2
|
66
|
18
| p11.2-pter | 14.3 | P | PD Abnormal ultrasound | Mat | 2 | 67 |
18
| p11.23-pter | 7.2 | P | PA MCA | Mat | 3 | 68 |
18
| p11.2-pter | 14.3 | F | PA MR, short stature | Mat | 2 | 69 |
18
| p (pre-banding) | 20.1 | – | PA Failure to thrive, ptosis | Matm | 3 | 70 |
18
| q23-qter | 5.7 | M | PA Dysmorphic | Mat | 2 | 71 |
18
| ?q21-qter | 30.8 | – | PA MCA | Mat | 5 | 72 |
18
| q22.3-qter | 8.6 | – | PA | Mat | 2 | 73 |
20
| p11.2-p12.2 | 5.8 | – | PA Dysmorphic | Mat | 2 | 74 |
21
| q11-q21.3 | 17.3 | M | PA Dislocated hips | Mat | 2 | 75 |
22
| q11.2-q11.2 | 2.0 | M | PA Cardiac failure | Mat | 4 | 76 |
Subtotal | 38 families | Av 10.9 | 21/38 | PA 35/38; PD 3/38 | Mat 32/38;
>pat 3/38;
>both 4/38 | 107 |
6/38 Abstracts only
|
dup | | | | | | | |
1 | q23-q25 | 15.7 | – | PA Mild MR and dysmorphism | Mat | 2 | Family A77 |
3
|
q25.3-q26.2
|
17.0
|
F
|
PA Microcephaly; CHD and deafness
|
Both
|
9
|
78
|
4 | q31.22-q33 | 19.5 | – | PA Mild MR and dysmorphism | Mat | 2 | Family B77 |
4 | q31.1-q32.3 | 18.6 | F | PA Dev delay, nasal speech | Mat | 3 | 79 |
5
|
q15-q22.1
|
13.6
|
–
|
PA Hyperactive, mild MR
|
Mat
|
2
|
80
|
7 | p12.2-p13 | 5.5 | F | PA Failure to thrive | Mat | 4 | 81 |
7 | p12.1-p13 | 6.9 | F,M | PA Short stature, ?Silver-Russell | Mat | 2 | 82 |
7
|
q32-q36.1
|
17.8
|
–
|
PA Dev delay, behavioural problems
|
Mat
|
2
|
83
|
8 | p23.1-p23.1 | 6.5 | P | PA CHD | Patm | 2 | 84 |
8 | p23.1-p23.1 | 6.5 | – | PA Dev delay | Mat | 3 | Family 333 |
8 | p23.1-p23.1 | 6.5 | – | PA* Dev delay, hypotonia, (PWS) | Pat | 2 | Family 433 |
8 | p22-p23.1 | 9.6 | F | PA Mild MR only | Mat | 3 | 85 |
8 | p21.3-p23.1 | 9.6 | P | PA CHD | Mat | 3 | Family 186 |
8 | p21.3-p23.1 | 9.6 | P | PA Speech delay | Pat | 3 | Family 286 |
8 | p21.3-p22 or p22-p23.1 | 9.6 | P | PA MR, short stature, hypertelorism | Mat | 3 | 87 |
8 | p12-p21.1 | 6.9 | F,B | PA Dev delay | Mat | 4 | 88 |
9 | p22-p24 | 11.4 | F | PA Short, low IQ, dysmorphic | Pat | 2 | 89 |
10 | p13-p15 | 4.0 | F | PA Dev delay especially speech | Both | 6 | 90 |
11 | q13.5-q21 or q21-q23.1 | 13.8 | F | PD Maternal age | Mat | 2 | 91 |
14 | q13-q22 | 26.1 | P | PA Dev delay | Mat | 3 | 92 |
15 | q11.2-q13 | 4.0 | M | PA Dev delay, hypogonadism | Mat* | 6 | Family 235 |
15 | q11.2-q13 | 4.0 | M | PA Severe MR | Mat* | 3 | Family 335 |
15 | q11.2-q13 | 4.0 | M | PA Dev delay | Mat* | 5 | Family 435 |
15 | q11-q13 | 4.0 | F+M | PA Dev delay | Mat | 6 | Family A93 |
16
| q11.2-q12.1 | 5.1 | F | PA Speech delay | Pat | 4 | Family 294 |
18 | cen-pter | 21.5 | F | PA Dysmorphic, moderate MR | Matm | 2 | 95 |
21 | q22-qter | 18.3 | F | PA Unusual appearance | Mat | 3 | 21 |
Subtotal | 27 families | Av 10.9 | 21/27 | PA 25/27; PA* 1/26; PD 1/26 | Mat 20/27;
>pat 5/27;
>both 2/27 | 191 |
3/27 Abstracts only
|
der | | | | | | | |
der(8) | dup 2q11.2-q21.1 | 28.1 | P | PA Unusual facies, language delay | Mat | 2 | 96 |
ins(8;2) |
ins(7;22) | del 22q13.3 | – | F | PA Mitral valve prolapse | Mat | 2 | 97 |
der(9)
| dup 10p14-p15 | 15.0 | F,M | PA MCA | Pat | 3 | 98 |
ins(9;10)
|
der(16)
| dup q11.2-q13.1 | 11.9 | F | PA Dev delay | Matm | 3 | Family 194 |
ins(16;16)
|
der(4) | del 4q34-qter; dup 5p15.1-pter | 13.3 | F | PA MR, dysmorphic | Mat | 2 | 99 |
t(4;5) | 15.0 |
t(4;14)
| del 4 or 14 | 10.0 | M | PA Genital and retinal abnormalities | Pat | 2 | 100 |
der(4)
| del 4q35.2-qter; del 22q11.2-pter | 1.3 | – | PA CHD, dysmorphism | Mat | 2 | 101 |
t(4;22)
| 12.4 |
der(5) |
del 5p15.32-pter; dup?
|
6.8
|
F
|
PA ?Cri-du-chat
|
Both
|
4
|
102
|
t(5;?) |
–
|
der(10)
| dup 5q35-qter; del 10q26.13-qter | 3.4 | F | PA Dysmorphic | Mat | 2 | Family 1103 |
t(5;10)
| 6.6 |
der(22)
| del 21q21.2-pter | 21.6 | F | PA* Sibling with Down’s syndrome | Mat | 5 | 104 |
t(21;22)
|
der(20)
| dup 6p23-pter; del 20p13-pter | 17.4 | F | PA Dev delay, dysmorphic features | Pat | 2 | 105 |
t(6;20)
| 4.4 |
der(Y)
| dup 8p22-pter | 17.8 | P | MC Miscarriages ×3 | Pat | 3 | 106 |
t(Y;8)
|
Subtotal | 12 families | | 11/12 | PA 10/12; MC 1/12; PA* 1/12 | Mat 6/12;
>pat 5/12;
>both 1/12 | 132 |
1/12 Abstracts only
|
Totals | 77 families | | 53/77 | PA 71/77; PA* 1/77; PD 4/77; MC 1/77 | Mat 58/77;
>pat 12/77;
>both 7/77 | 230 |
10/77 Abstracts only
|