Abnormal myelination in a patient with ring chromosome 18

BACKGROUND: Most adult anatomical texts state that the deep inguinal ring is situated midway between the anterior superior iliac spine and the pubic tubercle. The aim of this study was to determine if this was true in prepubescent children. METHODS: A total of 107 inguinal ligaments and canals were measured during inguinal operations in 80 children (68 boys, age range 1-118 months). RESULTS: The length of the inguinal ligament increased from a median of 4.3 cm (range 3.6-6.8) at less than 1 year of age to 7.5 cm (range 6.7-10.1) at over 4 years of age. The internal ring was situated medial to the midpoint of the inguinal ligament throughout childhood. The ratio of internal ring to public tubercle over inguinal ligament length was 42% (range 27-58) at less than 2 years; and 34% (range 25-46) at over 4 years. The inguinal canal remained short (median 1 cm (range 0.7-1.1) at less than 2 years, and median 1.1 cm (range 0.7-2.3) at over 4 years) suggesting that growth of the inguinal region in this age group occurs outside the canal. CONCLUSIONS: These results have implications for the siting of incisions, and question the necessity of opening the inguinal canal in children.     

Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets

OBJECTIVE: To evaluate the pregnancy potential of frozen-thawed surgically retrieved epididymal sperm when used with intracytoplasmic sperm injection (ICSI). PATIENTS AND METHODS: From August 1994 to January 1997, 20 thawed samples of sperm from 19 patients, surgically retrieved and frozen after percutaneous or open epididymal aspiration, were used for ICSI. The results were compared with those obtained using fresh sperm obtained at the same procedure. RESULTS: Of the specimens of surgically retrieved sperm which had been frozen, stored and thawed, 15 had sufficient motile sperm for use with ICSI. The fertilization, cleavage and pregnancy rates in those cycles were similar to the same couples' previous cycle using fresh sperm from the same collection and to the overall results in the NURTURE ICSI programme obtained with fresh epididymal sperm. CONCLUSION: Scrotal exploration for diagnostic testicular biopsy and/or reconstructive surgery without having access to sperm-freezing and storage facilities could represent a lost opportunity for the patient.     

Short stature and azoospermia in a patient with Y chromosome long arm deletion

We report on a 42-year old male with short stature, azoospermia and a wide deletion of long arm of Y chromosome. On physical examination, the patient showed height of 149 cm (< 1 degree centile) and reduced volume (3 ml) and consistency of the testes. On hormonal evaluation, he showed increased serum gonadotropins and normal serum testosterone levels though its HCG stimulated levels were limited. Serum thyroid hormones were normal. Serum GH levels in baseline evaluation as well as after GHRH and GHRH + pyridostigmine administration were normal. Serum IGF I levels were lower than normal in baseline evaluation whereas its response to the GH administration was in the normal range. The bilateral testicular biopsy showed tubular atrophy, hyalinosis, interstitial sclerosis and a histological picture of a Sertoli cell only syndrome. Moreover the patient showed arthropathy, otopathy, small chin, small mouth and truncal obesity. On genetic evaluation, the patient showed a 46,X,delY (pter--q11.1:) karyotype and loss of several DNA loci on Yq. In fact he preserved short arm SRY, centromeric DYZ3 and more proximal euchromatic region Yq loci, including DYS270, DYS271, DYS272, DYS11, DYS273, DYS274, DYS148, DYS275, and missed more distal DNA loci from DYS246 to DYZ2. These results disclosed a wide Y long arm deletion, including all hypothized Yq azoospermia loci (except for AZFa and probably for one of the RBM genes, which lie proximally to the deletion) and possibly the Y-specific growth control region (GCY), mapped between DYS11 and DYS246 loci. This deletion is responsible for the complete azoospermia of the patient and probably also for his short stature, even if other factors could be implicated in the statural impairment. It further possibly allowed to relate the GCY gene(s) to the control of GH or IGF-I receptor or post-receptor pathway, being the alteration of this gene(s) consistent with the hormonal pattern of the patient.     

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.     

Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting

A constitutional chromosome 14 rearrangement was observed in a female with a psychodevelopmental disorder. Karyotype analysis using a variety of chromosome techniques, QFQ, GTG, CBG, Ag-NOR and DA-DAPI, showed a deletion of chromosome 14q32.1-qter region in association with a supernumerary marker chromosome. The marker, resembling a submetacentric, approximately half the size of a G group chromosome is C band and Ag-NOR negative. The heteromorphism of the satellites showed that the deleted chromosome 14 is paternal in origin. Chromosome painting using an Alu-PCR probe specific for the human chromosome 14 and fluorescent in situ hybridization (FISH) showed that the marker contains chromosome 14q32 sequences. It is likely that the marker was generated from the deleted chromosome 14 region through a complex rearrangement.     

Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome

In some cases of facial deformities, devices have been designed to promote bone growth: intraorbital spherical expander for microphthalmia, bone distractors for micrognathia, in oto-mandibular syndromes, but when the various treatment technique are carefully compared, the superiority of these procedure is linked to the gradual gain of skin and they can then be assimilated to a skin expansion procedure.     

Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)

Subcutaneous infusion ports (SIPs) represent a valid method for long-term chemotherapy. The SIPs have several advantages over other methods of venous access: they are easy to implant under local anaesthesia, have less discomfort for the patients, allow low costs, can be implanted in day hospital, and can be managed ambulatorily. However, SIPs have delayed complications, frequently related to clinical conditions of the neoplastic patients, and immediate complications, often due to the placement technique. From March 1992 to March 1997 we placed, under local anaesthesia and under fluoroscopic control, 102 SIPs in 99 general oncology patients for long-term chemotherapy (88% solid, 12% haematological tumours). The percutaneous venous access devices were in the subclavian vein in 96% of the cases and in the internal jugular vein in 4% of them. Immediate complications were: 1 haemopneumothorax, which required thoracic aspirations and two blood transfusions, 1 loop of the tunneled part of the catheter without alterations in SIP function, and 1 left jugular thrombosis in a patient with subclavian veins already thrombosed. The venous access was in the subclavian vein in the first 2 cases, and it was not necessary to suspend the therapeutic program. In the third instance, implanted in jugular vein, it was necessary to remove the SIP. Delayed complications were: 1 necrosis of the skin over the port, 1 infection of subcutaneous pocket, 2 infections of the system, 1 catheter deconnection, and 3 catheter ruptures with embolization of the catheter tip. The SIPs were removed in all cases but 1 in whom infection was successfully treated by appropriate antibiotic therapy. Embolization of the catheter required removal from the pulmonary artery under fluoroscopic guidance in the cardiac catheterization laboratory. In conclusion, infection and thrombosis are the two major complications of SIP in general oncology patients. In these cases it is not necessary to remove systematically the system, but a correct therapy (antibiotic, fibrinolytic agents) can be utilized with good results. The catheter rupture is often due to the wear over the costoclavicular angle. The interventional radiology is the method of choice in the treatment of the catheter embolization by rupture or dislocation. The experience of the surgical and nursing staff is probably the most important factor in decreasing the total rate of complications.     

A case of de novo interstitial deletion of chromosome 5(q33q34)

Regional intrahepatic chemotherapy of inoperable primary and secondary liver tumours can achieve, as compared with the little effective systemic chemotherapy, a higher percentage of therapeutic responses. The objective of regional chemoimmunotherapy, i.e. the use of cytokines, in particular interferon alpha (IFN-a) and interleukin-2 (IL-2) in the therapeutic regimens is to improve the survival of patients with malignant liver tumours. One of the main prerequisites of the effect of locally administered cytokines is activation of hepatic lymphocytes (LAL)-liver associated lymphocytes, effectors with specific phenotype and potential anti-tumourous effect directly in the target area. Although in regional monotherapy the effectiveness of cytokines is low, regimens combining the administration of cytostatics with IL-2 achieve a 50-70% therapeutic response. The authors summarize basic data on the regional administration of cytokines and present an review of combined regimens of regional chemoimmunotherapy, including their own protocol of the Masaryk Oncological Institute in Brno.     

Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

Pulmonary lymphangitic carcinomatosis (PLC) is an unusual presentation of diffuse infiltrative lung disease. In this report we present two cases secondary to breast cancer; the diagnosis was made by means of transbronchial lung biopsy or postmortem examination. The goal of this study was to analyze the scintigraphic pattern of pulmonary perfusion performed with technetium-99m macroaggregated albumin (99mTc-MAA) in the hope of achieving improved recognition of PLC and its subsequent diagnosis. Upon admission, both patients underwent routine clinical exams followed by chest X-rays. The second patient also underwent CT examination, and both were ultimately examined using pulmonary perfusion scintigraphy with 99mTc-MAA. In the various exams performed, the most reliable and easily identified diagnostic finding turned out to be a characteristic 'fragmented' lung pattern revealed with the perfusion lung scan. Unfortunately, in both cases the patients' conditions rapidly worsened and death occurred shortly following scintigraphy. We were able to conclude that the recognition of the mentioned fragmented scintigraphic lung pattern may be useful in suspected PLC, whereas the nonspecific clinical presentation of this pathology makes diagnosis extremely difficult, with the most significant results being achieved through a comparison of scintigraphic and high resolution CT data.     

Cytogenetic localization of genetic markers on porcine chromosome 7q

We report two cases of port site metastasis as the presenting feature of colonic and ovarian carcinoma after laparoscopic cholecystectomy. Cholecystectomy was performed for upper abdominal pain and gallstones. Six and 4 months after the operation the patients presented with nodules at port sites, other than the site of extraction. Biopsy proved both to be adenocarcinoma and further management found these to be from advanced caecal and ovarian carcinomas.     

Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome

National Health Insurance (NHI) was introduced in Taiwan on March 1, 1995. To evaluate the Influence of NHI on the volume and severity of emergency department (ED) visits, a retrospective analysis was conducted. The results showed that NHI did not result in a substantial increase in ED volume (P > .05), but the severity as measured by triage nurses did increase (P < .01). There was no change in the number of admissions to the intensive care units of patients transferred from smaller hospitals, but its percentage significantly decreased (P < .05), which may be a result of the significant increase in the total number of interhospital transfers. It was hypothesized that the universal coverage and a copayment contributed to these changes.     

Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female

A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.     

A boy with developmental delay and a maternally inherited deletion in 15q11q13

Antisera against a novel 60-kD antigen (P60) were developed using immunomasking strategy which shows malignant growth-related expression in human breast cancer tissue. Cell adhesion assay in the presence of P60 antibody clearly indicates a role for P60 directly or indirectly in adhesion of tumor cells to extracellular matrix protein vitronectin. These results indicate that P60 could be a potential marker to distinguish benign from malignant growth of human breast tissue, and that P60 could be an integrin or a non-integrin receptor, or a receptor-related protein to vitronectin.     

Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus

A patient with ring chromosome 6/monosomy 6 mosaicism is presented. At 25 weeks' gestation, ultrasound examination demonstrated fetal hydrocephalus. Amniocentesis was performed. The fetal karyotype was 45,XY,-6/ 45,XY,-6,+f/46,XY,r(6)(p25q27). Delivery of this male infant was by Caesarean section at 37 weeks' gestation. The karyotype in peripheral blood lymphocytes was 46,XY,r(6)(p25q27) with no indications of mosaicism. The infant had hydrocephalus which required treatment with a ventriculoperitoneal shunt at 22 days of age. He had no other obvious serious congenital anomalies. By 17 months he had developed microcephaly, seizures, severe bilateral hearing loss, and global development delay. This patient provides information regarding phenotypic variability of ring chromosome 6 and also reinforces the importance of offering amniocentesis if fetal hydrocephalus is detected as an isolated anomaly.     

Capsular tension ring in a patient with Weill-Marchesani syndrome

Weill-Marchesani patients with cataractous lenses may presnet a surgical challenge in the presence of zonular weakness and microsherophakia. A 52-year-old Weill-Marchesani patient developed zonular dehiscence during capsule contraction after cataract extraction in her right eye. Use of a poly(methyl methacrylate) capsular tension ring in the second eye facilitated lens removal and intraocular lens placement. Postoperative results suggest the capsular tension ring provides long-term zonular stabilization by maintaining an internal force against the capsule.     

A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique

We report a new chromosomal finding in a 20 month-old girl. The minor clinical features included: moderate mental retardation, microcephaly, mild hypotonia and hypertelorism. Initially, what appeared to be a terminal deletion of the long arm of one chromosome 15 [15q26-->qter] was determined to be an interstitial deletion involving band 15q25 as revealed by FISH-technique, showing the presence of intact telomeric hybridization signals. The cytogenetic diagnosis was thus modified to 46,XX, del (15) (pter-->q24::q26--> qter). Nevertheless, the function of the enzyme telomerase should not be ignored, as healing could occur following such terminal deletions. Consequently, it will remain a difficult task to distinguish terminal deletions from those that are interstitial.