Case Reports
doi: 10.1007/BF00394300.
Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)
- PMID: 730173
- DOI: 10.1007/BF00394300
Item in Clipboard
Case Reports
Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)
Hum Genet.
.
Abstract
A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to those in the two cases already described.
Similar articles
-
Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.Ann Genet. 1985;28(4):248-50. Ann Genet. 1985. PMID: 3879440
-
Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].Am J Med Genet. 1983 May;15(1):141-4. doi: 10.1002/ajmg.1320150119. Am J Med Genet. 1983. PMID: 6859113
-
A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.Hum Genet. 1976 Sep 10;34(1):103-6. doi: 10.1007/BF00284446. Hum Genet. 1976. PMID: 964998
-
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].Am J Med Genet. 1996 Jan 2;61(1):45-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8741917 Review.
-
Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).Am J Med Genet. 1990 May;36(1):29-32. doi: 10.1002/ajmg.1320360107. Am J Med Genet. 1990. PMID: 2185634 Review.
Cited by
-
Genetic markers on chromosome 7.J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294. J Med Genet. 1988. PMID: 3290488 Free PMC article. Review.
-
Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).J Med Genet. 1994 May;31(5):413-5. doi: 10.1136/jmg.31.5.413. J Med Genet. 1994. PMID: 8064823 Free PMC article.
-
A case of partial 5q trisomy associated with partial 7q monosomy.Br J Ophthalmol. 1986 Aug;70(8):630-3. doi: 10.1136/bjo.70.8.630. Br J Ophthalmol. 1986. PMID: 3741831 Free PMC article.
-
Partial monosomy 7q syndrome due to distal interstitial deletion.Hum Genet. 1981;57(2):210-3. doi: 10.1007/BF00282026. Hum Genet. 1981. PMID: 7228036
-
Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.Hum Genet. 1984;68(1):77-86. doi: 10.1007/BF00293878. Hum Genet. 1984. PMID: 6500560