Chromosome Aberrations in 2159 Consecutive Newborn Babies

Sergovich, F. R.; Valentine, G. H.; Chen, A T; Kinch, R. A. H.; Smout, M S

doi:10.1056/nejm196904172801602

Cited by 175 publications

(46 citation statements)

References 9 publications

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“…Large scale of chromosome surveys of consecutive liveborn hospital births have been performed using conventionally stained preparations in seven different laboratories (Sergovich et at., 1969;Gerald and Walzer, 1970;Lubs and Ruddle, 1970;Jacobs et al, 1974;Bochkov et al, 1974;Hamerton eta[., 1975;Nielsen and Sillesen, 1975). More recently, chromosome surveys of newborn infants utilizing various banding techniques have been published from 3 centers (Linet al, 1976;Hansteen et al, 1982;Bratkowska et aL, 1985).…”

Section: Discussionmentioning

confidence: 99%

A cytogenetic survey of 14,835 consecutive liveborns

et al. 1991

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SummaryThe results of chromosome studies on cultured umbilical cord blood lymphocytes from a consecutive series of 14,835 liveborn infants (7,608 males and 7,227 females) are described. Ninety-three infants (6.27 per 1,000) had a m~or chromosome abnormality. Of these, thirtyone infants (2.09 per 1,000) had sex chromosome abnormalities. Seven male infants had a 47,XXY karyotype, five had a 47,XYY karyotype, and three were mosaics. One male had a ring Y chromosome in all cells examined. A pericentric inversion of the Y chromosome was found in one case. Seven female infants had a 47,XXX karyotype, one had a 45,X karyotype and six were mosaics. Sixty-two infants (4.18 per 1,000) had autosomal abnormalities. There were twenty-one infants with trisomy 21 including one mosaic, six infants with trisomy 18, and two infants with trisomy 13 of a Robertsonian translocation type. Three infants had an unbalanced derivative chromosome resulting from a parental reciprocal translocation. Two infants with a partial monosomy of chromosome 13 were detected. There were four infants carrying an additional small marker chromosome. Twenty-four infants (1.62 per 1,000) had a balanced structural rearrangement of the autosomes; eleven with a Robertsonian translocation, eleven with a reciprocal translocation, and two with a pericentric inversion. The incidence of each type of major chromosome abnormality in this study was quite similar to that obtained from previous newborn surveys. Key Words chromosome abnormality, cytogenetic survey, newborn populationReceived December 21, 198921, ." revised version received February 7, 1991 Accepted February 8, 1991, 117 118 T. MAEDA et al.

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Section: Discussionmentioning

confidence: 99%

A cytogenetic survey of 14,835 consecutive liveborns

et al. 1991

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“…Such rearrangements, particularly between the acrocentric chromosomes, occur with relatively high frequencies: for example, D-D, 1/1,000 [1][2][3]; D-G, 1/3,000 [4]. On the other hand, translocations between the autosomes and the X chromosome in man are relatively rare.…”

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confidence: 99%

Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

Cohen

Lin

Sybert

et al. 1973

Obstetrical & Gynecological Survey

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“…10 Larger studies have been done in the population with SC and with particular reference to DS. 4,11 Many methods have been postulated to diagnose SC in DS children. 11,12 Single palmar creases are less common than two palmar creases, however 10% of the population have one SC on one hand and 5% have one SC on both hands.…”

Section: Discussionmentioning

confidence: 99%

“…4,11 Many methods have been postulated to diagnose SC in DS children. 11,12 Single palmar creases are less common than two palmar creases, however 10% of the population have one SC on one hand and 5% have one SC on both hands. 2,3,10 Males are twice more common than females to have this characteristic, and it tends to run in families.…”

Section: Discussionmentioning

confidence: 99%

“…16 Other syndromes with SC are Cohen syndrome, turner syndrome, cri du chat syndrome (chromosome 5), Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), Edward's syndrome (chromosome 18), and Aarskog-Scott syndrome (X-linked recessive) 11,15,16 and congenital rubella syndrome. 18 The knowledge of dermatoglyphics is important and is an interesting part of science.…”

Section: Discussionmentioning

confidence: 99%

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The Enigma of Simian Crease: Case series with literature review

Sunilkumar

2014

Int J Contemp Pediatr

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Simian crease (SC), a single transverse crease that extends from across the palm of the hand. The presence of a single transverse palmar crease or the SC can be, but not always, a symptom associated with abnormal medical conditions. In dysmorphology, the clinical significance of variability of palmar creases especially SC are widely recognized and have occurred more frequently in patients with various congenital anomalies that are caused by genetic as well as environmental insults in the first half of pregnancy. SC has been studied extensively in children especially with Down's syndrome (DS) where the incidence of SC is more than 63%. In this case report, two families are discussed with relevance to the presence of SC. The first family with two children with DS have no SC in any of them, whereas the second healthy family only the father who is a doctor by profession having an SC.

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Chromosome Aberrations in 2159 Consecutive Newborn Babies

Cited by 175 publications

References 9 publications

A cytogenetic survey of 14,835 consecutive liveborns

A cytogenetic survey of 14,835 consecutive liveborns

Two Human X-Autosome Translocations Identified by Autoradiography and Fluorescence

The Enigma of Simian Crease: Case series with literature review

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