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1.
Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33) 总被引:3,自引:0,他引:3
We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46,XX,del(2)(q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low-set ears, and hand and foot abnormalities. 相似文献
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David Chitayat Riyana Babul Meredith M. Silver Venita Jay Ikuko E. Teshima Paul Babyn Laurence E. Becker 《American journal of medical genetics. Part A》1996,61(1):45-48
We report on a terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)] in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compared to those of four previously reported cases with terminal del (3q). © 1996 Wiley-Liss, Inc. 相似文献
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S A Al-Awadi T I Farag R Usha M Y el-Khalifa T S Sundareshan S A Al-Othman 《American journal of medical genetics》1986,23(4):931-933
A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery. 相似文献
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Kaaron Benson Margaret Gordon E. Robert Wassman Chung Tsi John M. Opitz James F. Reynolds 《American journal of medical genetics. Part A》1986,25(3):405-411
We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that this particular deletion uniformly results in developmental delays, craniofacial changes, and occasionally results in microcephaly, low-set ears, and hand and foot abnormalities. 相似文献
7.
Kiyotaka Suwa Mariko Y. Momoi Takanori Yamagata Yuuko Mori 《American journal of medical genetics. Part A》1998,78(3):291-293
We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum α-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed. Am. J. Med. Genet. 78:291–293, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].
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C Kempen 《Journal of medical genetics》1975,12(2):204-207
This paper describes the clinical symptoms and cytogenetic findings in a patient previously described in a doctoral thesis (van Kempen, 1969). The patient is a boy with multiple congenital anomalies and a deletion of the long arm of chromosome 4. A recent Giemsa banding study showed absence of the terminal G-band, as was found in the patient described by Golbus et al (1973). The symptoms and other data on the three patients known to have a deletion of the long arm of chromosome 4 are presented to facillitate comparison of these cases. However, the number of cases so far on record is too small to warrant conclusions on the basis of this comparison. 相似文献
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We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples. 相似文献
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S A Al-Awadi T I Farag K Naguib A Teebi A Cuschieri S Al-Othman T S Sundareshan 《Journal of medical genetics》1983,20(6):464-465
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet. 相似文献
11.
A child who presented at three months of age with pyloric stenosis and pancytopenia was found to have a partial deletion of the long arm of chromosome 11, del(11)(q24.1----qter). Only two previous cases have been described with an apparently identical chromosomal deletion, and both exhibit similar phenotypic features. Other patients with larger deletions of the distal region of the long arm of chromosome 11 show many features in common with these three cases. It is suggested that the region of the long arm of chromosome 11 from band q24.1 to qter may contain the genetic material responsible for the expression of the 11q - phenotype. 相似文献
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Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] 总被引:3,自引:0,他引:3
An interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis. 相似文献
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Yoshimitsu Fukushima Keiko Wakui Toshiro Nishida Hiroshi Nishimoto 《American journal of medical genetics. Part A》1990,36(2):209-213
An interstitial deletion of 15q [46, XY, del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis. 相似文献
14.
Stuart Schwartz Joann Meekins Susan R. Panny Chen-Chih J. Sun Maimon M. Cohen John M. Opitz 《American journal of medical genetics. Part A》1983,15(1):141-144
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter→q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q – syndrome, in which patients usually have growth and mental retardation with few facial abnormalities. 相似文献
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Miriam G. Wilson Joseph W. Towner Irene Forsman Evelyn Siris Robert L. Summitt 《American journal of medical genetics. Part A》1979,3(2):155-174
We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18. 相似文献
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T D Wardinsky E Weinberger R A Pagon S K Clarren H C Thuline 《American journal of medical genetics》1990,35(1):60-63
A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3----qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autopsy. 相似文献
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Silvia Copelli Graciela Del Rey Juan Heinrich Roberto Coco 《American journal of medical genetics. Part A》1995,55(1):77-79
Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation. © 1995 Wiley-Liss, Inc. 相似文献
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Nathaniel H. Robin Mark Magnusson Donna McDonald-McGinn Elaine H. Zackai Nancy B. Spinner 《Clinical genetics》1993,44(6):335-337
Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3) (q25.1q26.1). Clin Genet 1993: 44: 335–337. © Munksgaard, 1993
A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed. 相似文献
A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed. 相似文献
20.
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism 总被引:2,自引:0,他引:2
Margherita Cirillo Silengo Graciela Lopez Bell M. Biagioli P. Franceschini 《Clinical genetics》1988,33(2):108-110
A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10-month-old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and "butterfly-shaped" vertebrae. 相似文献