Normal Y sequences in Smith‐Lemli‐Opitz syndrome with total failure of masculinization

Abstract

We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter. An EEG showed spike waves in the right temporal area. The patient appeared to have normal internal and external genitalia of the female type. Both ovaries were dysplastic. The karyotype was 46,XY. All of 26 loci on the Y chromosome were positive including SRY, a candidate gene for TDF.

Mass and Metallicity of Five X‐Ray–bright Galaxy Groups

“…The X-ray luminosities and temperatures of the groups appear to be consistent with the well-known correlation in clusters (e.g., Mushotzky 1984, Edge & Stewart 1991, David et al 1993, Mushotzky & Scharf 1997, Fukazawa 1997. In Figure 6 we show the 0.5−10 keV X-ray luminosity L X at 0.5 Mpc against the X-ray temperature kT of our groups (square points) compared to a sample of clusters and groups studied with ASCA by Fukazawa (1997). The groups fall on the lower luminosity end of the relation defined by the clusters.…”

“…We assume that the gas is isothermal, since this is consistent with our spatially resolved spectral analysis (Table 2), and take the gas temperatures from the global spectral results in Table 2. Most groups for which the temperature profile has been measured are indeed consistent with being isothermal (e.g., see Mulchaey et al 1996 and references therein, Fukazawa et al 1996), with the exception of those whose central regions may harbor cooling flows (e.g., Fukazawa et al 1996, 1996b, Ponman & Bertram 1993. The total binding masses at 0.5 Mpc for our groups are (3 − 8) × 10 13 M ⊙ (Table 7), higher than those reported for lower temperature groups by Pildis et al (1995) and , but comparable to those reported for six MKW and AWM poor clusters by Kriss et al (1983) using Einstein Observatory data.…”

“…Pointed observations with the Einstein and ROSAT X-ray Observatories have by now identified several dozen X-ray emitting groups (e.g., Kriss et al 1983, Price et al 1991, Pildis et al 1995, Henry et al 1995, Doe et al 1995, Ponman et al 1996. Results using spectrometers of higher resolution and bandwidth on the ASCA Observatory have now been presented by Fukazawa et al (1996), Pedersen et al (1997), and Davis et al (1998), among others. Given that groups are the most common environment for galaxies, but are poorly understood compared to their richer cluster cousins, it is important to enlarge the sample of X-ray emitting groups that have been well-studied.…”

“…Low abundance groups have now been confirmed (NGC 2300, Sakima et al 1995) and newly identified by ASCA (e.g., NGC 3259, Pedersen et al 1997; also see Davis et al 1998). Fukazawa (1997) and Renzini (1997) point out a pattern in the X-ray temperature and Fe abundance of groups and clusters: at temperatures above about 1 keV, the Fe abundance shows little variance from about 0.3 times solar, while at lower temperatures, there is a large spread in abundances, with a tendency toward very low values 1 . Our groups fit into the pattern noted by Fukazawa and Renzini in that a 0.3 ⊙ metallicity is expected for temperatures of 2−3 keV.…”

“…Our groups have average element abundances of about 0.3⊙, which is the remarkably homogeneous value observed in the rich clusters (Allen &Fabian, 1998, Mushotzky et al 1996 andreferences therein). Although some other groups have cluster-like abundances (e.g., Fukazawa et al 1996), others have substantially lower element abundances (e.g., NGC 4261, Davis et al 1995;NGC 2300. Low abundance groups have now been confirmed (NGC 2300, Sakima et al 1995) and newly identified by ASCA (e.g., NGC 3259, Pedersen et al 1997; also see Davis et al 1998).…”