 |
 |
- CHROMOSOME 7 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly- DYS = dysmorphic facial features - dermatological features (= dispigmentation incl. café-au-lait spots) - also possible: skin cancer predisposition (from this page) - also possible: cleft lip and palate |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 07- p22.?3q36.?3/ 1-1 |
female/ 7y |
PBL
|
dn |
46,XX,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XX,r(7)[95] /46,XX,r(7;7) [1]/47,XX,r(7),+r(7)[3]/ 46,XX,?ace(7)[1] |
GTG |
dispigmentation,
short stature, systemic hypertension; normal
intelligence |
{1, case
RC7-4; 147} |
|
| RC/O- 07- p22.?3q36.?3/ 1-2 |
female/ 18y |
PBL
|
dn |
46,XX,r(7)(p22.?3q36.?3) |
GTG |
dispigmentation. short stature; normal intelligence |
{1, case
RC7-10; 153, 154, 155} |
|
| RC/O- 07- p22.?3q36.?3/ 1-3 |
male/ 8y |
PBL, fibrs |
?dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7)(p22.3q36.3)[80%]/45,XY,-7[20%]; |
GTG |
dispigmentation, short stature; normal intelligence |
{1, case
RC7-12; 157} |
|
| RC/O- 07- p22.?3q36.?3/ 1-4 |
male/ 2m |
PBL
|
dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7) (p22q36)[98]/46,XY,r(7;7)(p22q36;p22q36) [7]/46,XY[50] |
GTG |
dispigmentation, short stature; normal intelligence |
{1, case
RC7-7; 150} |
|
| RC/O- 07- p22q36/ 1-1 |
male/ newborn |
PBL
|
?dn |
46,XY,r(7)(p22q36) dynamic mosaicism: 46,XY,r(7)(p22.3q36.3)[39]/46,XY,r(7;7) (p22.2q36.3;p22.2q36.3)[3]/45,XY,-7[1]. Subtelomer 7pter and 7qter present |
GTG FISH |
short stature, micocephaly; normal intelligence |
{1, case
RC7-16; 161} |
|
| RC/O- 07- p22q36/ 1-2 |
female/ |
PBL |
dn |
46,XX,r(7)(p22q36) dynamic mosaicism: 46,XX,r(7)[80~90%]/45,XX,-7/46,XX,dr(7) |
GTG |
growth retardation,
dispigmentation, anemia; normal intelligence |
{1364; 1365 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/O- 07- p13q36/ 1-1 |
male/ 7y |
PBL
|
dn |
46,XY,der(7)t(7;9)(p13;p24)
r(7)(p13q36) |
GTG FISH |
Dimorphic anemia otherwise normal |
{1358 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 07- p22.?3q36.?3/ 1-1 |
male/ ~2y |
PBL
|
?dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7)[57]/46,XY,r(7;7)[2]/45,XY,-7[2]/47,XY,r(7),+r(7)[1]/46,XY[1] |
solid staining | DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-1; 145, case 1} |
|
| RC/W- 07- p22.?3q36.?3/ 1-2 |
male/ ~1.3y |
PBL
|
?dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7)[52]/46,XY,r(7;7)[1]/45,XY, -7[4]/47,XY,r(7),+r(7)[3]/46,XY[2] |
solid staining | DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-2; 145, case 2} |
|
| RC/W- 07- p22.?3q36.?3/ 1-3 |
female/ ~0.5y |
PBL
|
?dn |
46,XX,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7)[140]/46,XY,r(7;7)[8]/47,XY,r(7),+r(7)[1]/47,XY,r(7),+r(7;7)[1]. |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation | {1, case
RC7-3; 146} |
|
| RC/W- 07- p22.?3q36.?3/ 1-4 |
male/ ~1y |
PBL
|
?dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-5; 148} |
|
| RC/W- 07- p22.?3q36.?3/ 1-5 |
male/ prenatal |
AF
|
?dn |
46,XY,r(7)(p22.?3q36.?3) dynamic mosaicism: 46,XY,r(7)[~50%]/45,XY, -7[~50%] |
GTG |
positive serum screening; ?TOP |
{1355 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22.?3q36.?3/ 1-6 |
female/ 16y |
PBL
|
?dn |
46,XX,r(7)(p22.?3q36.?3) |
GTG |
DD, microcephaly, growth retardation, DYS, hypotonia, seizures | {1356 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22.?3q36.?3/ 1-7 |
male/ 3y |
PBL
|
?dn |
46,XY,r(7)(p22.?3q36.?3) in aCGH monosomy 7 -so mosaic 45,XY,-7/46,XY,r(7) |
GTG aCGH |
DD | {1368 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22q36/ 1-1 |
female/ ~0.5y |
PBL
|
dn |
46,XX,r(7)(p22q36) dynamic mosaicism: 46,XX,r(7)(p22q36)[46]/45,XX,-7[3]/46,XX, r(7;7)(p22q36;p22q36)[1] |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-6; 149} |
|
| RC/W- 07- p22q36/ 1-2 |
male/ 39y |
PBL
|
?dn |
46,XY,r(7)(p22q36) dynamic mosaicism: 47,XY,r(7)(p22q36),+r(7)/47,XY,r(7;7) (p22q36;p22q36),+r(7;7). |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-8; 151} |
|
| RC/W- 07- p22q36/ 1-3 |
male/ newborn |
PBL
|
dn |
46,XY,r(7)(p22q36) dynamic mosaicism: 46,XY,r(7)(p22q36) [35]/45,XY,-7[1]/46,XY,r(7;7)(p22q36;p22q36)[3]/46,XY,r(7)(p?q?)[1] |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-9; 152} |
|
| RC/W- 07- p22q36/ 1-4 |
male/ newborn |
PBL
|
dn |
46,XY,r(7)(p22q36) dynamic mosaicism: 5% |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-11; 156} |
|
| RC/W- 07- p22q36/ 1-5 |
male/ newborn |
PBL
|
?dn |
46,XY,r(7)(p22q36) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC7-18; 163} |
|
| RC/W- 07- p22q36/ 1-6 |
female/ 25y |
PBL
|
?dn |
46,XX,r(7)(p22q36) dynamic mosaicism: 46,XX[90%]/46,XX,r(7)(p22q36)[10%] |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-19; 164} |
|
| RC/W- 07- p22q36/ 1-7 |
male/ ~0.5y |
PBL
|
?dn |
46,XY,r(7)(p22q36) |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-24; 169} |
|
| RC/W- 07- p22q36/ 1-8 |
female/ newborn |
PBL
|
?dn |
46,XX,r(7)(p22q36) dynamic mosaicism: 46,XX,r(7)[75]/45,XX,-7[12]/47, XX,r(7)x2[5]/46,XX,dr(7)[4]/47,XX,r(7),+dr(7)[2]/47,XX,r(7),+inv(7)(:p11.1- p22::p36-q11.1:)[2]. Subtelomer 7pter present and 7qter absent |
GTG FISH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC7-20; 165} |
|
| RC/W- 07- p22q36/ 1-9 |
male/ postnatal |
PBL
|
?dn |
46,XY,r(7)(p22q36) dynamic mosaicism: 46,XY,r(7)[75]/47,XY,r(7)x2[5] |
GTG |
DD, microcephaly |
{1357 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22q36/ 1-10 |
female/ |
PBL |
?dn |
46,XX,r(7)(p22q36) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS, seizures,
dispigmentation |
{1202} |
|
| RC/W- 07- p22q36/ 1-11 |
female/ |
PBL |
?dn |
46,XX,r(7)(p22q36) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1359 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22q36/ 1-12 |
female/ |
PBL |
?dn |
46,XX,r(7)(p22q36) |
GTG |
DD, microcephaly, growth
retardation, DYS |
{1363, case
34 - provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22.3q36.1/ 1-1 |
female/ prenatal |
PBL
|
dn |
46,XX,r(7)(p22.3q36.1) dynamic mosaicism: 46,XX,r(7) (p22q36)[19]/46,XX,r(7;7)(p22q36;p22q36)[2] Subtelomer 7pter and 7qter absent acc. to aCGH loss at 7p: 0.17Mb and at 7q at 149.42 Mb |
GTG FISH aCGH |
DD, microcephaly, growth retardation,
DYS; TOP |
{1, case
RC7-21; 166} |
|
| RC/W- 07- p22.3q36.1/ 1-2 |
male/ newborn |
PBL, fibros | dn |
46,XY,r(7)(p22.3q36.1) dynamic mosaicism: 46,XY,r(7)(p22q36.3) [45]/45,XY,-7[6]/46,XY,dup(7)(p22q36.3) [2]. Subtelomer 7pter and 7qter absent acc. to aCGH loss at 7p: 0.99Mb and at 7q at 151.68Mb |
GTG FISH aCGH |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-22; 167} |
|
| RC/W- 07- p22.3q36.1/ 2-1 |
male/ |
AF |
dn |
46,XX,r(7)(p22.3q36.1) dynamic mosaicism: 46,XY,r(7)[46]/46,XY,dr(7)[4] acc. to aCGH ~8.9Mb loss in 7qter |
GTG |
DYS, TOP |
{1360, case
24; 1361, case 12 - provided by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 07- p22.3q36.3/ 1-1 |
male/ newborn |
PBL
|
?dn |
46,XY,r(7)(p22.3q36.3) dynamic mosaicism: 46,XY,r(7)(p22q36)[90]/45,XY,-7[8]/46,XY,dr(7)[1]/47,XY,r(7)x2[1] Subtelomer 7pter absent and 7qter present |
GTG FISH |
DD, microcephaly, growth retardation,
DYS; died at ~0.5y |
{1, case
RC7-13; 158} |
|
| RC/W- 07- p22.3q36.3/ 2-1 |
female/ prenatal |
AF |
dn |
46,XX,r(7)(p22.3q36.3) dynamic mosaicism: 46,XX,r(7)[124]/46,XX[1]/‘other variants’[18] Subtelomer 7pter present and 7qter absent |
GTG FISH |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-15; 160; 1352 - provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22.3q36.3/ 2-2 |
male/ newborn |
PBL
|
?dn |
46,XY,r(7)(p22.3q36.3) dynamic mosaicism: 46,XY,r(7)[44]/47,XY,r(7)x2[2]/47,XY,dr(7)x2[3]/45,XY,-7[3]. Subtelomer 7pter present and 7qter absent |
GTG FISH |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-17; 162} |
|
| RC/W- 07- p22.3q36.3/ 2-3 |
male/ prenatal |
AF |
?dn |
46,XY,r(7)(p22.3q36.3) dynamic mosaicism: 46,XY,r(7)[3]/46,XY[5]/45,XY,-7[5] acc. to aCGH ~4Mb loss in 7qter |
GTG aCGH |
DYS, ?TOP |
{1362, case
22 - provided
by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p22.2q36.1/ 1-1 |
male/ newborn |
PBL
|
?dn |
46,XY,r(7)(p22.2q36.3) dynamic mosaicism: 46,XY,r(7)[83]/47,XY,r(7)x2[5]/46,XY,dr(7)[1]/45,XY,-7[2]/46,XY[9]. |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-14; 159} |
|
| RC/W- 07- p21q24/ 1-1 |
male/ newborn |
PBL
|
dn |
46,XY,r(7)(p21q24) |
GTG |
microcephaly, growth retardation, DYS, dispigmentation |
{1353, 1354 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p21q35/ 1-1 |
male/ prenatal |
AF |
?dn |
46,XY,r(7)(p21q35) dynamic mosaicism: 46,XY,r(7)[16]/45,XY,-7[4]. Subtelomer 7pter and 7qter absent |
GTG FISH |
microcephaly, growth retardation, DYS |
{1366 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 07- p21.3q34/ 1-1 |
male/ 22y |
PBL
|
?dn |
46,XY,r(7)(p21.3q34) no exact data on breakpoints acc. to NGS- appr. at 12Mb and 140Mb |
GTG NGS |
DD, microcephaly, growth retardation, DYS, dispigmentation |
{1, case
RC7-23; 168} |
|
| RC/W- 07- p15.1q22.1/ 1-1 |
female/ 15y |
PBL
|
?dn |
46,XX,r(7)(p15.1q22.1) dynamic mosaicism: 46,XX,r(7)[~30%]/46,XX[~30%]. no exact data on breakpoints |
GTG FISH aCGH |
DD, growth retardation, DYS, |
{1367 -
provided by Dr. I. Lurie, Maryland, USA} |
|