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- CHROMOSOME #4 -
UNCLEAR
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(4)mat | UPD(4)pat | UPD(4)mat or pat |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 04- U- 1 |
see 04-Uu-1 see +21-U-1 |
|||||||
04- U- 2 |
male/ 2y |
PBL cell line at ECACC DD1329 |
de novo | 47,fra(X)(q27.3)Y,+mar[8]/ 46,fra(X)(q27.3)Y[42] |
mar(4).ish(cep+;wcp-) | all centromeric probes; wcp 4 | no physical abnormalities at 2y but language and other development moderately delayed; fragile X syndrome | {12} case 3 |
| 04- U- 3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[10]/ 46,XY[9] |
inv dup(4)(:p11.1→q12:) | cenM subcenM; UPD-test |
Amniocentesis due to AMA; no ultrasound abnormalities; pregnancy terminated | {1} case 9 |
| 04- U- 4 |
female/ prenatal |
Amnion cell line at ECACC DD0068 |
de novo | 47,XX,+mar[27%]/ 46,XX[73%] |
min(4) | all centromeric probes; wcp 4; UPD-test | Amniocentesis due to AMA; pregnancy terminated; mar present in fetal tissue, no clinical details available on fetus | {3} case 3 {15} case 2 |
| 04- U- 5 |
see mult 2-18 | {24} case MK {25} case 15 |
||||||
| 04- U- 6 |
female/ prenatal |
AF | de novo | 47,XX,+mar[20]/ 46,XX[13] |
r(4)(::p11→q11:) | centromeric probes | Amniocentesis due unclear MR of brother of father of the child. Normal ultrasound; TOP and in autopsy no anomalies. | {21} case 35 |
| 04- U- 7 |
male/ newborn |
PBL | de novo | 47,XY,+mar[100%] | r(4)(::p11→q12::)[8]/ r(4;4)(::p11→q12::p11→q12::)[2] |
cenM; subcenM | cerebellar atrophy, agranulocytosis, lymphocytosis; Hematuria, DD; cobalamnin-C-defect (homozygote c271dupA mutation in MMACHC gene in 1q34.1) | {0} provided by Dr. A. Dufke, Tübingen, Germany |
| 04- U- 8 |
female/ prenatal |
AF |
n.a. | 47,XX,+mar[100%] | min(4)(:p11→q11:) | cep probes, BACs {see 35} MLPA | AMA | {35} case 2 |
| 04- U- 9 |
see 04-Uc-1 | |||||||
| 04- U- 10 |
see 04-Uc-2 | |||||||
| 04- U- 11 |
see 04-Uu-2 | |||||||
| 04- U- 12 |
male/ prenatal |
AF | n.a. | 47,XY,inv(16)(q12q24),+mar[100%] | min(4)(:p11→q12:) | cenM/ subcenM |
n.a. | {0} provided by Dr. Stumm, Berlin, Germany |
| 04- U- 13 |
male/ prenatal |
AF | de novo | 47,XY,+mar[20%]/ 46,XY[80%] |
min(4)(:p12→q12:) | cenM/ subcenM |
AMA, TOP, autopsy normal | {0} provded by Dr. Joksik, Belgrade, Serbia |
| 04- U- 14 |
male/ prenatal |
AF | de novo | 47,XY,+mar[30]/ 46,XY[9] |
mar(4)(:p12→q13.1:) array (hg19): 46214008-60186304 |
aCGH | TOP | {48} case 4 |
| 04- U- 15 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100] | mar(4)(:p11→q12:) array (hg19): break in 59.167217Mb |
aCGH | TOP | {49} |
| 04- U- 16 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[23] | min(4)(:p13→q12:) arr[GRCh38] 4p13q12(44,296,785_ 56,873,429)x2~3 |
aCGH, cenM,
subcenM |
hyperechogenic focus on the left ventricl | {0}
provided from Portugal |
| 04- U- 17 |
male/ 6y |
PBL | n.a. |
47,XY,+mar[6]/
46,XY[30] |
min(4)(:p11→q12:) aCGH no imbalance |
aCGH, cenM, subcenM | DD, abnormal
behaviour, not related with sSMC |
{0}
provided from Stuttgart, Germany |
| 04- U- 18 |
male/ prenatal |
PBL | de novo |
47,XY,+mar[75]/
46,XY[25] |
mar(4)(:p11→q13.1:) arr[hg19] 4p11q13.1 (48,978,053_63,145,931)×3 |
aCGH |
NIPT showed
the sSMC; most likely TOP, even though
should be not leading to clinical problems |
{51} |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 04- Uc- 1 |
female/ 1y |
PBL | n.a. | 47,XX,+mar[100%] | min(4)t(4;7)(q12;p22.1) array-data: break on #4 position 52.38 and #7 position 7.06 |
diff. FISH-probes; aCGH | Plagiocephaly, optic nerve hypoplasia, hearing loss, hip dysplasia, and short stature. | {38} case
1 {42} |
| 04- Uc- 2 |
female/ newborn |
PBL | mat t(4;9) |
47,XX,+mar[100%] | min(4)t(4;9)(q12;p21.2) array-data: break on #4 position 54.42 and #9 position 27.24 |
diff. FISH-probes; aCGH | severe physical clincal signs; child died with 8 months | {39; 42} |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 04- Ud- 1 |
female/ prenatal |
AF | pat (low mosaic; sib also with sSMC) | 47,XX,+mar[100%] | min(4)(:p11→q12: :q13.2→q13.2:) aCGH (hg19) 52.68-55.51 and 67.24-69.19 |
aCGH; locus specific FIS | father normal, sib normal, normal child born | {46} |
| 04- Ud- 2 |
male/ n.a. |
PBL | de novo | 47,fra(X)(q27.3)Y,+r[30]/ 47,fra(X)(q27.3)Y[70] |
r(4)(::p14→p13::p10→ q10::q31.1→q31.3::) | all centromeric probes; wcp 4; midi; YAC probes as specified in {13} | see below | {13} case
A {14} case19 |
| moderate MR; minor anomalies, like macrocephaly, plagiocephaly, brachycephaly, epicanthic folds, flat midface with relative prognathism, malocclusion, high arched palate, hypoplastic ala nasi, thin upper lips, short and broad neck, small hands and feet; fragile X-syndrome. | ||||||||
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| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 04- Uu- 1 also listed as +21- 04- 1 |
male/ 1m |
PBL | de novo | 48,XY,+21,+mar[28]/ 47,XY,+21[7] |
min(4)(:p12→q11:) partial maternal iso-UPD 4p16 |
cenM subcenM; UPD-test |
Down-syndrome | {1} case
10 {2; 41} |
| 04- Uu- 2 |
n.a./ postnatal |
PBL | n.a. | n.a. | mar(4)(:p13→q12:) hg19:44.45–57.26Mb also (partial) (i)UPD 4 |
aCGH | most likely dymorphic and MR | {44} 1 case |