Abstract
A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 160-166 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics |
| Volume | 71 |
| Issue number | 2 |
| DOIs | |
| State | Published - 1997 |
| Externally published | Yes |
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Keywords
- Chromosome microdissection
- Chromosome translocation
- Del(lp)
- Dup(4q)
- FISH
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son : Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection. / Chen, Z.; Grebe, T. A.; Guan, X. Y.; Notohamiprodjo, M.; Nutting, P. J.; Stone, J. F.; Trent, J. M.; Sandberg, A. A.
In: American Journal of Medical Genetics, Vol. 71, No. 2, 1997, p. 160-166.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son
T2 - Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection
AU - Chen, Z.
AU - Grebe, T. A.
AU - Guan, X. Y.
AU - Notohamiprodjo, M.
AU - Nutting, P. J.
AU - Stone, J. F.
AU - Trent, J. M.
AU - Sandberg, A. A.
PY - 1997
Y1 - 1997
N2 - A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.
AB - A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.
KW - Chromosome microdissection
KW - Chromosome translocation
KW - Del(lp)
KW - Dup(4q)
KW - FISH
UR - http://www.scopus.com/inward/record.url?scp=0030741203&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030741203&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19970808)71:2<160::AID-AJMG8>3.0.CO;2-1
DO - 10.1002/(SICI)1096-8628(19970808)71:2<160::AID-AJMG8>3.0.CO;2-1
M3 - Article
C2 - 9217215
AN - SCOPUS:0030741203
VL - 71
SP - 160
EP - 166
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -