一名多发畸形新生儿2号染色体长臂的间质性缺失——核型：46,XX,del(2)(q21;q24)

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1

Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Hum Genet. 1977 Nov 10;39(2):233-8. doi: 10.1007/BF00287018.

2

Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).

Hum Genet. 1979 Apr 17;48(1):127-30. doi: 10.1007/BF00273286.

3

Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21).

Hum Genet. 1977 Oct 14;38(3):343-6. doi: 10.1007/BF00402162.

4

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.

5

Interstitial deletion of the long arm of chromosome 3.

Ann Genet. 1983;26(2):98-9.

6

De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14).

Acta Paediatr Scand. 1983 Jul;72(4):631-3. doi: 10.1111/j.1651-2227.1983.tb09785.x.

7

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).

Clin Genet. 1985 May;27(5):515-9. doi: 10.1111/j.1399-0004.1985.tb00242.x.

8

De novo interstitial deletion del(1)(p21p32).

J Med Genet. 1979 Aug;16(4):323-7. doi: 10.1136/jmg.16.4.323.

9

Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

Am J Med Genet. 1986 Nov;25(3):405-11. doi: 10.1002/ajmg.1320250302.

10

Interstitial deletion of chromosome 2 region in a malformed infant.

Am J Med Genet. 1993 Jan 1;45(1):49-51. doi: 10.1002/ajmg.1320450114.

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1

Chromosome abnormalities and the genetics of congenital corneal opacification.

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2

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

J Med Genet. 1998 Aug;35(8):617-23. doi: 10.1136/jmg.35.8.617.

3

Interstitial deletion (2)(p13p15).

Hum Genet. 1981;57(2):214-6. doi: 10.1007/BF00282027.

4

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

J Med Genet. 1983 Jun;20(3):199-202. doi: 10.1136/jmg.20.3.199.

5

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

J Med Genet. 1983 Dec;20(6):464-5. doi: 10.1136/jmg.20.6.464.

6

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.

7

Interstitial deletion 2q24.3: case report with high resolution banding.

J Med Genet. 1985 Jun;22(3):226-8. doi: 10.1136/jmg.22.3.226.

8

Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Hum Genet. 1989 Apr;82(1):92-3. doi: 10.1007/BF00288283.

9

Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

Hum Genet. 1979 Oct 1;51(2):123-5. doi: 10.1007/BF00287165.

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MN blood-group locus: data concerning the possible chromosomal location.

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Duplication deficiency syndrome in familial translocation (2q-;5p+).

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[Familial translocation 2-D].

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Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

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[Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

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[A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Hum Genet. 1976 May 19;32(2):225-7. doi: 10.1007/BF00291510.

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Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

Hum Genet. 1976 Apr 15;32(1):101-4. doi: 10.1007/BF00569983.

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A cytogenetic study of human spontaneous abortions using banding techniques.

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Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

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[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].

Ann Genet. 1977 Mar;20(1):52-5.

Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

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