Improving the quality of perinatal and infant necropsy examinations: a follow up study

AIM: To compare the quality of perinatal and infant necropsy examinations in 1996 with those performed in 1993. METHODS: Cohort analysis, with data from the All Wales Perinatal Survey, of 1027 deaths (540 in 1993; 487 in 1996) of babies between 20 weeks' gestation and one year of age. The quality of the necropsy was assessed by scoring aspects identified as being part of the investigation. RESULTS: Necropsy was performed in 335 cases (62%) in 1993 and in 320 cases (66%) in 1996. The proportion done in a regional centre increased significantly from 39% (131/335) in 1993 to 76% (243/320) in 1996 (p < 0.0001). The quality of necropsy was above the minimum standard in 54% of cases in 1993 (171/314) compared with 93% in 1996 (289/312) (p < 0.0001). Improvement occurred in all categories. For stillbirths, 35% (46/133) were above the minimum standard in 1993 compared with 90% (104/116) in 1996 (p < 0.0001); for cases not classified as sudden unexpected death in infancy (SUDI), the improvement was from 62% in 1993 (40/65) to 97% in 1996 (73/75) (p < 0.0001); and for SUDI cases, the improvement was from 32% in 1993 (10/31) to 91% in 1996 (21/23) (p < 0.0001). The quality of both non-regional and regional necropsies improved. For non-regional cases, the score was above the minimum standard in 28% (51/183) in 1993 compared with 69% (52/75) in 1996 (p < 0.0001); for regional cases it improved from 92% (120/131) in 1993 to 100% (237/237) in 1996 (p < 0.0001). CONCLUSIONS: The quality of perinatal and infant necropsies improved considerably between 1993 and 1996, reflecting better awareness of the importance of good quality examination and an increase in referrals to paediatric centres.     

The hand-foot-genital syndrome: on the variable expression in affected males

Fryns JP, Vogels A, Decock P, Van den Berghe H. The hand-foot-genital syndrome: on the variable expression in affected males.
Clin Genet 1993: 43: 232–234. © Munksgaard, 1993
In this report we document male-to-male transmission in the hand-foot-genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling.     

Proposed: an international code of ethics for medical genetics

Wertz DC, Fletcher JC. Proposed: an international code of ethics for medical genetics.
Clin Genet 1993: 44: 37–43. © Munksgaard, 1993     

Myotonic dystrophy: from linkage with secretor status to mutation detection

Sutherland GR. Myotonic dystrophy: from linkage with secretor status to mutation detection.
Clin Genet 1993: 43: 273–275. © Munksgaard, 1993     

Cleft lip and palate incidence among the live births in the Republic of Korea

We present an epidemiologic study of cleft lip and palate in the Republic of Korea from January 1, 1993 through December 31, 1993. In 1993, the number of total live births was 715,817. And from 1993 through 1995, a total of 1,293 new patients with cleft lip and palate who were born in 1993 were identified. The incidence of cleft lip and palate was 1.81 per 1000, that is, 1 per 554 live births. The cleft lip: cleft lip and palate: cleft palate alone ratio was 1.13:1:1.19. The male: female ratio was 2.1:1 in the cleft lip group, and 2.5:1 in the cleft lip and palate group. We could detect a male predominance in both groups. In contrast, the ratio was 0.95:1 in the cleft palate group. The left: right: bilateral ratio was 1.9:1:0.23 in cleft lip group, and the ratio was 2.2:1:1.1 in the cleft lip and palate group. This is the first nation-wide study to provide detailed data on the incidence of cleft lip and palate in the live births in the Republic of Korea.     

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23

Fryns JP, Strømme P, van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
Clin Genet 1993: 44: 149–151. © Munksgaard, 1993
We report a 6-year-old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome ( b lepharophimosis, p tosis, e picanthus inversus s yndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3—q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3-q23.     

Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia

Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia.
Clin Genet 1993: 44: 142–145. © Munksgaard, 1993
We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood.     

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

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.     

不同时期北京市城区儿童行为问题比较研究

目的：比较不同时期北京城区儿童行为问题的检出率。方法：对两个时期的北京市城区儿童行为问题的调查结果进行了比较，两次调查均选用Ｒｏｔｔｅｒ行为评定量表进行评定。结果：１９９３年儿童行为问题的检出率为１０．９％，显著高于１９８５年的检出率（８．３％，Ｐ〈０．０５）；其中，Ｎ行为、ＡＮ行为的检出率也均明显高于１９８５年；而Ａ行为的检出率则是１９９３年（５．５％）明显低于１９８５年，男孩行为问题检出率２次     

PCR analysis of a three-allelic PvuII—RFLP at D4S127 closely linked to the Huntington disease locus

Willoh R, Zühlke C, Gerdes B, Wiese S, Thies U. PCR analysis of a three-allelic PvuII—RFLP at D4S127 closely linked to the Huntington disease locus.
Clin Genet 1993: 43: 321–323. © Munksgaard, 1993
The polymorphic probe BJ56PS18 defined the genetic locus D4S127 closely linked to the Huntington disease (HD) gene. BJ56PS18 detects a three-allelic polymorphism after PvuII digestion in Southern blots. For rapid genotyping in HD-families, two different PCR conditions were established.     

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome

Ioan DM, Belengeanu V. Maximilian C, Fryns JP. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.
Clin Genet 1993: 43: 300–302. © Munksgaard, 1993
A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).     

Neu-Laxova syndrome: report of a case from Turkey

Kuseyri F, Bilge I, Bilgiç L, Apak MY. Neu-Laxova syndrome: report of a case from Turkey.
Clin Genet 1993: 43: 267–269. © Munksgaard, 1993
We describe a case of Neu-Laxova syndrome in a newborn female who was born at full-term to consanguineous Turkish parents. The pathological and radiological features are described.     

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.     

Two siblings with mental retardation and progressive spasticity

Nicolaides P, Baraitser M, Brett EM. Two siblings with mental retardation and progressive spasticity.
Clin Genet 1993: 43: 312–314. © Munksgaard, 1993
We describe two siblings with a progressive form of spastic paraplegia, seizures and non-progressive mental retardation.     

Amount of pollen has an effect on the systemic and local levels of soluble ICAM-1 in patients with seasonal allergic rhinitis

We investigated whether the amount of antigen has an effect on the systemic and local levels of soluble ICAM-1 (sICAM-1) in patients with pollinosis, and assessed its biologic significance. The levels of subjective symptoms and sICAM-1 in sera and nasal epithelial lining fluids (ELF) from 14 subjects with pollinosis (allergic group) and eight healthy subjects (control group) were measured from pre- to postseason in 1993 (total pollen count: 10854/cm²) and 1994 (total pollen count: 415/cm²), and the results were compared with each other among the four groups. The levels of subjective symptoms and sICAM-1 in ELF from the allergic group significantly increased during the season in both 1993 and 1994. However, there was a significant difference ( P < 0.01) between the levels of those in 1993 and those in 1994 during the season. The levels of sICAM-1 in sera from the allergic group were significantly upregulated during the seasons and postseasons only in 1993, and there was a significant difference ( P < 0.05) between the levels in 1993 and those in 1994 during the postseason. We conclude that amount of pollen has an influence on the local and systemic levels of sICAM-1, as well as the scores of subjective symptoms, in patients with seasonal allergic rhinitis.     

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

Rizzo R, Pavone L, Micali G, Hall JG. Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome.
Clin Genet 1993: 44: 1–7. © Munksgaard, 1993
A family in whom several members are affected with nail-patella dysplasia is reported because of severe renal involvement and bilateral antecubital pterygia. The family presented as arthrogryposis because of the elbow contractures.     

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L1, Marfany G, Lissens W, Gonzàlez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet 1993: 44: 320–323. © Munksgaard, 1993
Pseudodeficiency in arylsulphatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). Unambiguous discrimination between the two conditions cannot be achieved through conventional enzyme activity assays. A PCR method has been developed which detects the pseudodeficiency (pd) allele using a single pair of primers encompassing the mutation site and hair follicles as the source of DNA. The frequency of this allele in the Spanish population has been evaluated and correlations between different genotypes and ASA activity levels have been established. Ten out of 55 individuals were heterozygous for the ASA pd allele, while two were homozygous. The allele frequency was thus 12.7%.     

Evidence of chromosome 9 origin of the euchromatic variant band within 9qh

Hoo JJ, Szego K, Wong P, Roland B. Evidence of chromosome 9 origin of the euchromatic variant band within 9qh.
Clin Genet 1993: 43: 309–311. © Munksgaard, 1993
Fluorescence in-situ hybridization studies using a whole chromosome 9 painting probe were performed on three individuals from two different families, who carry a chromosome 9 variant with an extra band within the elongated 9qh region. The results confirm the euchromatic nature of the extra band, and provide evidence that it is of chromosome 9 origin. This variant band, which may not be very rare, thus possibly results from a duplication of a segment of 9qh plus band p12 or part of band q21.     

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly

Strømme P, Dahl E, Flage T, Stene-Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.
Clin Genet 1993: 44: 208–210. © Munksgaard, 1993
Two siblings who presented shortly after birth with signs of upper intestinal obstruction were successfully operated for apple peel jejunal atresia. In addition to intestinal malformations, both siblings exhibited severe microcephaly and ocular abnormalities not previously reported in this condition.     

A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families

Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families. Clin Genet 1993: 44: 44–45. © Munksgaard, 1993
Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR-based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification-created restriction site with Taql digestion was used for detection of the PAH gene mutation.