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Table 1 Results of a direct segregation analysis of pedigree showing the probability of recurrence estimates obtained separately for: liveborn with unbalanced karyotype, stillbirth/early neonatal death, miscarriage, and child with normal phenotype

From: Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

Carrier

Parental sex

Liveborn with unbalanced karyotype

Stilbirth

Miscarriage

Child with normal phenotype

Pregnancies

Rate

U

u

S

s

M

m

N

n

P

p

u/p

s/p

m/p

n/p

  

1

0

1

1

3

3

2

2

7

6

0/6

1/6

3/6

2/6

III:1

PAT

-

-

-

-

1

1

4

3

5

4

−/4

−/4

1/4

3/4

II:6

MAT

-

-

-

-

-

-

2

1

2

1

−/1

−/1

−/1

1/1

IV:8

MAT

1

1

1

1

2

2

-

-

4

4

1/4

1/4

2/4

−/4

III:8

MAT

-

-

-

-

-

-

2

2

2

2

−/2

−/2

−/2

2/2

II:8

MAT

-

-

-

-

-

-

5

5

5

5

−/5

−/5

−/5

5/5

I:1;I:2

MAT?

PAT?

-

-

  

-

-

6

5

6

5

−/5

−/5

−/5

5/5

 

Total

2

1

2

2

6

6

21

18

31

27

1/27

2/27

6/27

18/27

         

Probability

(%)

3.7±3.6

7.4±5.0

22.2±8.0

66.7±9.1

  1. U number of children with unbalanced karyotype, u number of children with unbalanced karyotype after ascertainment correction, S number of stillbirth, s number of stillbirth after ascertainment correction, M number of miscarriages, m number of miscarriages after ascertainment correction, N number of children with normal phenotype, n number of children with normal phenotype after ascertainment correction, P total number of pregnancies, p total number of pregnancies after ascertainment correction
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Molecular Cytogenetics

ISSN: 1755-8166