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Summary of reported population studies to assess the frequency of chromosome abnormalities (excluding fragile sites, polymorphisms and single cell abnormalities) |
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| Study |
Subjects karyotyped |
Chromosome abnormality |
Clinical diagnosis |
|
|
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| Konstantareas & Homatidis 1999 [123] |
127 |
6 [4.7%] |
Diagnosed using the clinical criteria of autistic disorder by DSM-III (1983–1989) |
| 46,XY,inv(2)(p11q13)pat,3q+ |
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| 47,XY,+mar |
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| 47,XY,+mar |
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| 47,XX,+13 |
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| 47,XX,+inv dup(15)(pter→ q13::q13→ pter) |
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| 47,XY,+der(15)(pter→ q15::p11→ pter)de novo |
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| Gillberg & Wahlstrom 1985 [124] |
46 |
2 [4.3%] |
Diagnosed using the American Psychiatric Association (1980) criteria DSM-III |
| 47,XY,+21 |
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| 47,XYY |
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| Lauritsen 1999 [122] |
145 |
4 [2.8%] |
Cases with psychotic symptoms before 2–3 years or beginning at 2–3 or later between 1969–1993 |
| 47,XX,+mar,?t(13;22) |
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| 46,XX,t(9;10)(p23;q23.1) |
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| 46,XY,inv(10)(p11.21;q21.2)mat |
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| 46,XY,t(7;12)(q21.4;q15)de novo |
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| Li 1993 [121] |
104 |
5 [4.8%] |
Diagnosed using the American Psychiatric Association (1980 & 1987) guidelines, DSM-III & III-R |
| 47,XY,+21 |
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| 46,XY/47,XY,+21 [12/88] |
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| 46,XY,t(5;6)(q13;p23)de novo |
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| 46,X,inv(Y)(p11q11) |
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| 46,fra(X)(q27.3),inv(Y)(p11q11) |
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| Weidmer-Mikhail 1998 [120] |
59 |
1 [1.69 %] |
DSM-III-R (1991–1995) |
| Tetrasomy 15 |
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| Ritvo 1990 [6] |
233 |
9 [3.9%] |
DSM-III (1984–1988) |
| 6-trisomy 21 |
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| Partial trisomy 8 |
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| Deletion 9p |
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| 46,XX,t(5q;11q)pat |
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| Wassink 2001 [119] |
278 |
13 [4.7 %] |
DSM-III,-III-R & -IV (1980–1999) |
| 46,XX,del(8)(p23) |
MR, diaphragmatic hernia, hemivertebra, 2-vessel umbilicus, strabismus |
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| 47,XX,der(14)t(14;?)(q22;?) |
MR, abnormal facies & palate, failure to thrive |
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| 46,XX,dup(15)(q11.2;q13) |
MR, abnormal EEG, precocious puberty |
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| 2–46,XY,del(15)(q11.2q13) |
Mild MR Moderate MR & Seizures |
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| mat47,XX,+mar de novo 47,XX,+mar |
McCune-Albright syndrome Microcephaly, abnormal facies |
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| 47,XY,+del(15)(q22) |
MR |
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| 46,XY,del(16)(q13q22) |
MR, Seizures, failure to thrive, abnormal facies, webbed neck macrocephaly, syndactyly |
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| 46,XY,add(17)(q23) |
MR & abnormal facies |
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| 2–47,XX,+21 |
MR, heart murmur, esotropia, recurrent pneumonia. MR1VSD, pneumonia and seizures |
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| 46,XY,add(22)(q13) |
Macrocephaly and failure to thrive |
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| Present |
421 |
14 [3.3%] |
Physician referrals to a genetic lab. 1995–2003 March |
Reddy BMC Medical Genetics 2005 6:3 doi:10.1186/1471-2350-6-3 |
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