Læknablaðið - 01.12.1967, Side 37

LÆKNABLAÐIÐ
237
3. tafla.
Biochem. genetic data Father Mcther Son
Haptoglobin 2—1 2—1 2—1
Transferin C C C
Cholinesterase Cr.— C»— Cr.—
Acid phosphatase BA B BA
6 — PGD A A A
PGM 1 1 1
AK 2—1 2—1 2—1
Blood groups Father Mcther Son
ABO 0 0 0
Rh Rir R;r Rir
MNss Ms- Ns- NSN NNg( —)
Pi — + —
Luther a— a—
Kell a— — —
Lewis a— b-j- a—
Duffy a— b-j- a+ a-|-
X g a-r a—
Skýxúngar: 6 — PGD = Phosphogluconate dehyarogenase.
PGM = Phosphoglucomutase.
AK = Adenylkinase.
1 2. töflu eru skráð fjögur afbrigði af litningagöllum, sem
lýst hefur verið í sambandi við 13—15 litningahóp (D-hóp).
SUMMARY
A male baby with multiple congenital malformations is de-
scribed. It is considered to have D (13—15) trisomy and translo-
cation of the extra chromosome.
The supportive findings are recorded in table 1, and compared
with anomalies connected with the Di trisomy, as listed by Smith et
al. 1963.
The baby died at the age of 4 months. The father, aged 43 and
the mother aged 39, have normal karyotypes.
They already had four normal children. No abortions. Blood group
and biochemical data collected on the parents and affected baby wexe
uninformative.