摘要:

A family is described in which three siblings had congenital abnormalities consistent with partial trisomy 9q syndrome. Karyotyping indicated that the mother was a carrier of two separate balanced reciprocal translocations involving three chromosomes (46,XX,t (6;8;9)(6q27;8p23;9q32;9q13)) resulting from four breakpoints. The three siblings had inherited the der(8) from their mother and hence were partially trisomic for 9q32→9qter and partially monosomic for 8p23→9pter (46,XX,der(8),t(8;9)(p23;q32)mat). The clinical features of the three cases were comparable to those reported in the literat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02824.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Wolf syndrome has been recognized since the mid‐sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter→8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from ade novobalanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02825.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Incontinentia Pigmenti Achromians is a neurocutaneous disorder of uncertain etiology that has been associated with other systemic manifestations including ophthalmologic, musculoskeletal, neurologic and dental abnormalities. Chromosome abnormalities have been documented in some cases but may be coincidental.We describe a 16‐month‐old black female with an iris coloboma and single central deciduous maxillary incisor in addition to the hypopigmented skin lesions of hypomelanosis of Ito. The combination has not been previously descri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02826.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 9‐year‐old boy with onychotrichodysplasia and chronic neutropenia is presented. In contrast to cases described earlier, our patient has normal intelligence. The typical features of trichorrhexis nodosa are shown by electronmicroscopic photography. The chronic neutropenia is discussed and supposed to be part of the so‐called lazy leucocyte syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02827.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t{2;ll)(q33:q25). Clinically, the infant had features of both 2q+ and llq– syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasize

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02828.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Nine members of three generations of a South African kindred had cervical ribs. The distribution of this abnormality in the family was consistent with autosomal dominant inheritance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02829.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 2‐year‐old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dys‐plastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic fea

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02830.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 5‐month‐old girl had a typical 12p trisomy syndrome due to a monocentric i(12p) present in a 46‐chromosome complement that also included the translocation of all 12q onto the 8p telomere; i.e., her complex karyotype could be written as 46.XX, – 8,–12,+ der(8),t(8;12)(p23.3;cen), + i(12p). The present concurrence of a whole‐arm q translocation and an i(p) for a single chromocome, along with six previous similar instances involving chromosomes 4, 5 and 9, suggests the following origin for such a special rearrangement: a centric fission in Gl initially yielding two telocentrics; at the next replication, the tel(q) translocates onto a nonhomologous telomere (centromere‐telomere fusion), whereas the tel(p) becomes an i(p). This mechanism can be either meiotic or postzygotic and surmises that the translocated long arm retains a partial centromere, which subsequently is inactivated and loses its staini

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02831.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Pallister‐Killian syndrome is a dysmorphic syndrome characterized by a tissue‐limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. In this study, the interpretation of the extra chromosome as composed of two short arms of chromosome 12 is confirmed, using molecular methods. Furthermore, restriction fragment length polymorphisms indicate that the two arms are identical, which is compatible with the hypothesis of an isochromosome 12p. A new feature which may be important in understanding the mechanism of origin of the abnormality is described: the proportion of abnormal mitoses falls dramatically during long‐term culture of fibrob

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02832.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Ade novodeletion of the short arm of chromosome 20 ‐ del (20) (pi 1) or (pllp13) ‐ is described in a child with psychomotor retardation and multiple congenital anomal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02833.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY