Heteroploidy in mammals

Beatty, R. A.; Fischberg, M.

doi:10.1007/bf02986841

Cited by 33 publications

(1 citation statement)

References 32 publications

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“…Hot-shock treatment of mouse eggs at about the time of sperm penetration has been shown by Fischberg and Beatty (1952) to result in a quite high incidence of triploidy in m~-day embryos. They thought it very likely that the condition arose by suppression of second polar body formation, the embryos thus having one paternal and two maternal sets of chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Fertilization of the Mouse Egg and the Effect of Delayed Coitus and of Hot-Shock Treatment

Braden¹,

Austin²

1954

Aust. Jnl. Of Bio. Sci.

112

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A total of 329 mated adult mice was used in the investigations. The mean number of eggs per mouse recovered from 171 mice killed 3-15 hr after ovulation was 8·10 (S.D. 1·94).In mice maintained under conditions of controlled illumination (light from 3, to 5 a.m., dark from 5 a.m. to 3 p.m.) ovulation began about 11 a.m. and was virtually complete by 4 p.m. The average interval between the ovulation and sperm penetration of an egg was about 5 hr. The sperms spent a mean time of about 35 min in the perivitelline space before entering the vitellus; after a further mean interval of about 2% hr the early pronuclei were seen.The mean delay between the beginning of ovulation and the beginning of sperm penetration, in anyone mouse, was 2*-3 hr. The mean time required for the majority (~%) of the eggs in anyone mouse to be penetrated by sperms, once penetration had begun, was 3Jf.-4 hr. A mean number of 18·6 sperms per tube was found at the site of fertilization shortly after ovulation.Mice kept under natural lighting conditions were not permitted coitus until 8-8.45 a.m. Sperm penetration of the eggs began between 9 and 9.30 a.m. Once penetration had begun, the average period required for the penetration by sperms of at least three-quarters of the eggs in anyone mouse was about 2 hr. The mean number of sperms at the site of fertilization at 9, 9.30, and 10 a.m. was 6·3, 7·9, and 20·6 sperms per tube, respectively. These findings are discussed in relation to the concept that sperms need to spend a period in the female tract to capacitate them for the penetration of the eggs.The incidence of polyspermy in mouse eggs was not increased by delaying coitus until 3-7 hr after ovulation.Hot-shock treatment applied to the eggs of mice 3 hr after mating increased the incidence of polyspermy (dispermy) from 0·3 to 3·8 per cent. and of eggs exhibiting suppression of the second polar body from 0·5 to 12·4 per cent. Several other forms of abnormal fertilization were also observed. It is considered that the triploidy reported in mouse embryos following hot-shock treatment of the eggs probably arose in most instances through suppression of second polar body formation, and only occasionally through polyspermic fertilization.

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Section: Discussionmentioning

confidence: 99%

Fertilization of the Mouse Egg and the Effect of Delayed Coitus and of Hot-Shock Treatment

Braden¹,

Austin²

1954

Aust. Jnl. Of Bio. Sci.

112

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Congenital Asymmetry and Diploid-Triploid Mosaicism

Jenkins¹,

Eisen²,

Sequin³

1971

Arch Pediatr Adolesc Med

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A 9\m=1/2\-year-oldgirl with congenital asymmetry manifested by a larger right half of the body demonstrated diploid-triploid mosaicism of chromosomes from skin fibroblast cultures but normal leukocyte karyotypes. Mosaicism was found in cells from both the larger and smaller sides of her body. The association of congenital asymmetry and diploid-triploid mosaicism has been reported only twice but may be more common than previously recognized.Congeni tal asymmetry as a rec¬ ognizable clinical problem ap¬ pears to be rare. The term congenital asymmetry is preferable to either "hemihypertrophy" or "hemiatrophy," since there is usually no evidence of excessive growth on ei¬ ther side. Even the larger side is of¬ ten below average for chronologic age. Congenital asymmetry is fre¬ quently associated with anomalies of one or more organ systems, particu¬ larly the neurocutaneous and skeletal structures. Retroperitoneal tumors of the adrenal glands and kidneys are more frequent in these patients.17 Moreover, in 1953 Silver et als de¬ scribed a syndrome of congenital asymmetry, short stature, and pre¬ maturely elevated urinary gonadotrophin values in children. Silver's syndrome is now an established en¬ tity and was the subject of an exten¬ sive review in 1964.9 A 9V2-year-old girl with congenital asymmetry demonstrated a normal chromosome karyotype in peripheral blood lymphocytes and diploid (2n)-triploid (3n) chromosomal mosaicism in skin fibroblasts. To our knowledge 2n/3n chromosomal mosaicism in this condition has been reported only twice previously.10"11 Report of a Case This 9y2-year-old girl was admitted to the pediatrie service for a diagnostic eval¬ uation of congenital asymmetry, most no¬ ticeable in the face and extremities with the right side larger than the left (Fig 1). She was the product of an uncomplicated 36-week gestation and weighed 1,588 gm (3 lb 8 oz) at birth. A younger sibling was reportedly normal.The mother also had three children dur¬ ing a previous marriage, all of whom were said to have been normal physically and of superior intelligence. The mother and father were not available for chromosomal studies or blood typing. Our patient did not walk until 2 years of age, nor talk distinctly until age 5 years.On physical examination the weight was 29 kg (64 lb), height, 124 cm (49 in), and head circumference, 49.5 cm. The face appeared smaller on the left, the right side of the tongue being noticeably larger than the left. (Table 1).Additional physical findings included noticeable down-turning of the outer edges of the mouth (Fig 1, left), a soft systolic functional murmur at the third left interspace, and infantile sexual devel¬ opment. No breast tissue was palpable and the external genitalia appeared com¬ patible with her chronologic age. There was moderate thoracic scoliosis to the right which was confirmed by chest roentgenogram. The liver and spleen were not palpable. No abdominal masses were de¬ tected. There was clinodactyly with a single crease on the left fifth digit. The skin appeared normal...

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Anomalies of fertilization leading to triploidy

Austin

1960

J. Cell. Comp. Physiol.

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Heteroploidy in mammals

Cited by 33 publications

References 32 publications

Fertilization of the Mouse Egg and the Effect of Delayed Coitus and of Hot-Shock Treatment

Fertilization of the Mouse Egg and the Effect of Delayed Coitus and of Hot-Shock Treatment

Congenital Asymmetry and Diploid-Triploid Mosaicism

Anomalies of fertilization leading to triploidy

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